You Searched For: Genetics+Learning+Activities


83,286  results were found

SearchResultCount:"83286"

Sort Results

List View Easy View

Rate These Search Results

Catalog Number: (BOSSBS-8333R-CY5)
Supplier: Bioss
Description: RDH13, also known as all-trans and 9-cis retinol dehydrogenase 13 or SDR7C3, is a 331 amino acid mitochondrial protein belonging to the short-chain dehydrogenases/reductases (SDR) family. Widely expressed, mostly in eye, pancreas, placenta and lung, RDH13 localizes on the outer side of the inner mitochondrial membrane. Related to microsomal retinoid oxidoreductase RDH11, RDH13 is considered to be a major enzyme among the RDH family of proteins. Catalytically active, RDH13 recognizes retinoids as substrates and may function in retinoic acid production. RDH13 may function to protect the mitochondria against oxidative stress. Leber congenital amaurosis (LCA) type 3, an inherited autosomal recessive retinal disease, has been associated with defects of RDH13. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9500R-HRP)
Supplier: Bioss
Description: Hemostasis following tissue injury involves the deployment of essential plasma procoagulants (prothrombin, and factors X, IX, V, and VIII), which are involved in a blood coagulation cascade that leads to the formation of insoluble fibrin clots and the promotion of platelet aggregation (1-3). Coagulation factor IX (plasma thromboplastic component, F9, F.IX, HEMB) is a vitamin K-dependent, single chain serine protease that is synthesized in the liver and circulates as an inactive precursor (3,4). Factor XIa mediated proteolytic cleavage of factor IX generates factor IXa, an active serine protease composed of a 145 amino acid light chain and a 236 amino acid catalytic heavy chain, linked through disulfide bonds (5). Genetic alterations at the Factor IX locus such as point mutations, insertions and deletions, can lead to hemophilia B, also known as Christmas disease (6).
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13390R-A647)
Supplier: Bioss
Description: GLUD2 is both mitochondrial matrix enzymes belonging to the Glu/Leu/Phe/Val dehydrogenases family. Exisiting as homohexamers, GLUD1 catalyzes the oxidative deamination of glutamate to ?ketoglutarate and ammonia while GLUD2 is involved in the recycling of glutamate during neurotransmission. GLUD1 is critical for regulating amino acid induced insulin secretion and is allosterically activated by ADP and inhibited by GTP and ATP. Mutations in the gene encoding GLUD1 causes hyperinsulinism-hyperammonemia syndrome (HHS), which is an inherited condition characterized by high insulin and ammonia levels in the blood. GLUD1 may also be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate. GLUD2 is expressed in testis and retina, with lower levels found in brain.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11512R-A680)
Supplier: Bioss
Description: Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterised by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS genes map to multiple loci and encode fourteen proteins, BBS1-BBS14. Many BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS10 (Bardet-Biedl syndrome 10), also known as chromosome 12 open reading fame 58, C12orf58 or FLJ23560, is a novel 723 amino acid protein belonging to the TCP-1 chaperonin family. BBS10 localizes to the basal body of primary cilium and assists in protein folding upon ATP hydrolysis. Inhibition of BBS10 has been found to impair ciliogenesis, activate the glycogen synthase kinase 3 pathway and cause peroxisome proliferator-activated receptor nuclear accumulation. The gene encoding BBS10 contains two exons and maps to human chromosome 12q21.2.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11512R-CY3)
Supplier: Bioss
Description: Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS genes map to multiple loci and encode fourteen proteins, BBS1-BBS14. Many BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS10 (Bardet-Biedl syndrome 10), also known as chromosome 12 open reading fame 58, C12orf58 or FLJ23560, is a novel 723 amino acid protein belonging to the TCP-1 chaperonin family. BBS10 localizes to the basal body of primary cilium and assists in protein folding upon ATP hydrolysis. Inhibition of BBS10 has been found to impair ciliogenesis, activate the glycogen synthase kinase 3 pathway and cause peroxisome proliferator-activated receptor nuclear accumulation. The gene encoding BBS10 contains two exons and maps to human chromosome 12q21.2.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11512R-A350)
Supplier: Bioss
Description: Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS genes map to multiple loci and encode fourteen proteins, BBS1-BBS14. Many BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS10 (Bardet-Biedl syndrome 10), also known as chromosome 12 open reading fame 58, C12orf58 or FLJ23560, is a novel 723 amino acid protein belonging to the TCP-1 chaperonin family. BBS10 localizes to the basal body of primary cilium and assists in protein folding upon ATP hydrolysis. Inhibition of BBS10 has been found to impair ciliogenesis, activate the glycogen synthase kinase 3 pathway and cause peroxisome proliferator-activated receptor nuclear accumulation. The gene encoding BBS10 contains two exons and maps to human chromosome 12q21.2.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9500R-CY5)
Supplier: Bioss
Description: Hemostasis following tissue injury involves the deployment of essential plasma procoagulants (prothrombin, and factors X, IX, V, and VIII), which are involved in a blood coagulation cascade that leads to the formation of insoluble fibrin clots and the promotion of platelet aggregation (1-3). Coagulation factor IX (plasma thromboplastic component, F9, F.IX, HEMB) is a vitamin K-dependent, single chain serine protease that is synthesized in the liver and circulates as an inactive precursor (3,4). Factor XIa mediated proteolytic cleavage of factor IX generates factor IXa, an active serine protease composed of a 145 amino acid light chain and a 236 amino acid catalytic heavy chain, linked through disulfide bonds (5). Genetic alterations at the Factor IX locus such as point mutations, insertions and deletions, can lead to hemophilia B, also known as Christmas disease (6).
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13185R-A555)
Supplier: Bioss
Description: The temporal genetic hierarchy influencing normal limb development can deregulate and mediate mammalian developmental syndromes. In mice, the limb deformity (ld) locus influences normal limb development and gives rise to alternative mRNAs that can translate into a family of proteins known as formins. Formins play a crucial role in cytoskeletal reorganization by influencing Actin filament assembly. Formins co-localize with the actin cytoskeleton and can translocate into the cell cytosol and into the nucleus in an HGF-dependent manner. Vertebrate nuclear formins can control polarizing activity in limb buds through establishment of a Sonic hedgehog/FGF-4 feedback loop. Deficiency mutations at the mammalian ld locus lead to profound developmental defects in limb and kidney formation. The human Formin 1 and 2 genes map to chromosome 15q13.3 and 1q43, respectively.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13185R-A488)
Supplier: Bioss
Description: The temporal genetic hierarchy influencing normal limb development can deregulate and mediate mammalian developmental syndromes. In mice, the limb deformity (ld) locus influences normal limb development and gives rise to alternative mRNAs that can translate into a family of proteins known as formins. Formins play a crucial role in cytoskeletal reorganization by influencing Actin filament assembly. Formins co-localize with the actin cytoskeleton and can translocate into the cell cytosol and into the nucleus in an HGF-dependent manner. Vertebrate nuclear formins can control polarizing activity in limb buds through establishment of a Sonic hedgehog/FGF-4 feedback loop. Deficiency mutations at the mammalian ld locus lead to profound developmental defects in limb and kidney formation. The human Formin 1 and 2 genes map to chromosome 15q13.3 and 1q43, respectively.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13185R-HRP)
Supplier: Bioss
Description: The temporal genetic hierarchy influencing normal limb development can deregulate and mediate mammalian developmental syndromes. In mice, the limb deformity (ld) locus influences normal limb development and gives rise to alternative mRNAs that can translate into a family of proteins known as formins. Formins play a crucial role in cytoskeletal reorganization by influencing Actin filament assembly. Formins co-localize with the actin cytoskeleton and can translocate into the cell cytosol and into the nucleus in an HGF-dependent manner. Vertebrate nuclear formins can control polarizing activity in limb buds through establishment of a Sonic hedgehog/FGF-4 feedback loop. Deficiency mutations at the mammalian ld locus lead to profound developmental defects in limb and kidney formation. The human Formin 1 and 2 genes map to chromosome 15q13.3 and 1q43, respectively.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9423R)
Supplier: Bioss
Description: TM4-B, also known as TSPAN16 (tetraspanin-16) or TM4SF16 (transmembrane 4 superfamily member 16), is a 245 amino acid multi-pass membrane protein that belongs to the tetraspanin (TM4SF) family. Members of the TM4SF family mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. TM4-B is broadly expressed in most human tissues and cell lines including neural and bone marrow derived tissues. The gene that encodes TM4-B contains nearly 31,000 bases and maps to human chromosome 19p13.2. Chromosome 19 consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG families and Fc receptors (FcRs).
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11776R-CY5)
Supplier: Bioss
Description: E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11776R-A647)
Supplier: Bioss
Description: E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-0175R-A750)
Supplier: Bioss
Description: Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity. Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2. Upon ligand-binding, undergoes homodimerisation, autophosphorylation and activation. Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates the GRB2-Ras-MAPK cascade that regulates for instance neuronal differentiation including neurite outgrowth. Through the same effectors controls the Ras-PI3 kinase-AKT1 signaling cascade that mainly regulates growth and survival. Through PLCG1 and the downstream protein kinase C-regulated pathways controls synaptic plasticity. Thereby, plays a role in learning and memory by regulating both short term synaptic function and long-term potentiation. PLCG1 also leads to NF-Kappa-B activation and the transcription of genes involved in cell survival. Hence, it is able to suppress anoikis, the apoptosis resulting from loss of cell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediate communication between neurons and glia.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-2147R-A680)
Supplier: Bioss
Description: Multifunctional protein that may modulate protein degradation pathways, apoptosis, transcription, signal transduction, cell cycle progress, and genetic stability by directly or indirectly interacting with hosts factors. Does not seem to be essential for HBV infection. May be directly involved in development of cirrhosis and liver cancer (hepatocellular carcinoma). Most of cytosolic activities involve modulation of cytosolic calcium. The effect on apoptosis is controversial depending on the cell types in which the studies have been conducted. By binding to human DDB1, may affect cell viability and stimulate genome replication. May induce apoptosis by localizing in mitochondria and causing loss of mitochondrial membrane potential. May also modulate apoptosis by binding human CFLAR, a key regulator of the death-inducing signaling complex (DISC). Moderately stimulates transcription of many different viral and cellular transcription elements. Promoters and enhancers stimulated by HBx contain DNA binding sites for NF-kappa-B, AP-1, AP-2, c-EBP, ATF/CREB, or the calcium-activated factor NF-AT. May bind bZIP transcription factors like CREB1 (By similarity).
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-13390R-CY7)
Supplier: Bioss
Description: GLUD2 is both mitochondrial matrix enzymes belonging to the Glu/Leu/Phe/Val dehydrogenases family. Exisiting as homohexamers, GLUD1 catalyzes the oxidative deamination of glutamate to ?ketoglutarate and ammonia while GLUD2 is involved in the recycling of glutamate during neurotransmission. GLUD1 is critical for regulating amino acid induced insulin secretion and is allosterically activated by ADP and inhibited by GTP and ATP. Mutations in the gene encoding GLUD1 causes hyperinsulinism-hyperammonemia syndrome (HHS), which is an inherited condition characterized by high insulin and ammonia levels in the blood. GLUD1 may also be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate. GLUD2 is expressed in testis and retina, with lower levels found in brain.
UOM: 1 * 100 µl


Inquire for Price
Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us on +353 1 88 22222.
Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us on +353 1 88 22222
This product is marked as restricted and can only be purchased by approved Shipping Accounts. If you need further assistance, email VWR Regulatory Department at eurega_services@eu.vwr.com
-Additional Documentation May be needed to purchase this item. A VWR representative will contact you if needed.
This product has been blocked by your organisation. Please contact your purchasing department for more information.
The original product is no longer available. The replacement shown is available.
Product(s) marked with this symbol are discontinued - sold till end of stock. Alternatives may be available by searching with the VWR Catalog Number listed above. If you need further assistance, please call VWR Customer Service on +353 1 8822222.
353 - 368 of 83,286
no targeter for Bottom