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Bioss
Numéro de catalogue:
(BOSSBS-15149R-A680)
Fournisseur:
Bioss
Description:
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf39 gene product has been provisionally designated C2orf39 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10342R-A350)
Fournisseur:
Bioss
Description:
In eukaryotes, the phosphorylation and dephosphorylation of proteins on serine and threonine residues is an essential means of regulating a broad range of cellular functions including division, homeostasis and apoptosis. A group of proteins that are intimately involved in this process are the protein phosphatases. In general, the protein phosphatase (PP) holoenzyme is a trimeric complex composed of a regulatory subunit, a variable subunit and a catalytic subunit. Four major families of protein phosphatase catalytic subunit have been identified, designated PP1, PP2A, PP2B and PP2C. An additional protein phosphatase catalytic subunit, PPX (also known as PP4), is a putative member of a novel PP family. The PP2B family comprises subfamily members PP2B-A alpha, PP2B-A Beta and PP2B-A Gamma. Two additional regulatory subunits been identified, designated PP2B-B1 and PP2B-B2.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6796R-HRP)
Fournisseur:
Bioss
Description:
Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment. As mature adipocytes, that express high CIDEC levels, are quite resistant to apoptotic stimuli, the physiological significance of its role in apoptosis is unclear. May play a role in the modulation of the response to osmotic stress by preventing NFAT5 to translocate into the nucleus and activate its target genes expression.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3254R-A680)
Fournisseur:
Bioss
Description:
Nuclear lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane. Two main subtypes of nuclear lamins can be distinguished, i.e. A type lamins and B type lamins. The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing, i.e. lamin A, lamin C and lamin Adel 10, while the B type lamins include two proteins arising from two distinct genes, i.e. lamin B1 and lamin B2. Recent evidence has revealed that mutations in A-type lamins give rise to a range of rare but dominant genetic disorders, including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy. In addition, the expression of A type lamins coincides with cell differentiation and as A type lamins specifically interact with chromatin, a role in the regulation of differential gene expression has been suggested for A type lamins.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11596R-A350)
Fournisseur:
Bioss
Description:
Transcription factors, OTX1 and OTX2, are two murine homologs of the Drosophila orthodenticle (OTD), show a limited amino acid sequence divergence. OTX1 and OTX2 play an important role during early and later events required for proper brain development in that they are involved in the processes of induction, specification and regionalization of the brain. OTX1 is involved in corticogenesis, sensory organ development and pituitary functions, while OTX2 is necessary earlier in development, for the correct anterior neural plate specification and organization of the primitive streak. OTX2 is also required in the early specification of the neuroectoderm, which is destined to become the fore-midbrain, and both OTX1 and OTX2 co-operate in patterning the developing brain through a dosage-dependent mechanism. A molecular mechanism depending on a precise threshold of OTX proteins is necessary for the correct positioning of the isthmic region and for anterior brain patterning. The genes which encode OTX1 and OTX2 map to human chromosomes 2p15 and 14q21-q22, respectively.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1257R-FITC)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15091R-CY3)
Fournisseur:
Bioss
Description:
Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf117 gene product has been provisionally designated C20orf117 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10938R-CY5)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a member of theTNF-receptor superfamily. This receptor is expressed preferentiallyin the tissues enriched in lymphocytes, and it may play a role inregulating lymphocyte homeostasis. This receptor has been shown tostimulate NF-kappa B activity and regulate cell apoptosis. Thesignal transduction of this receptor is mediated by various deathdomain containing adaptor proteins. Knockout studies in micesuggested the role of this gene in the removal of self-reactive Tcells in the thymus. Multiple alternatively spliced transcriptvariants of this gene encoding distinct isoforms have beenreported, most of which are potentially secreted molecules. Thealternative splicing of this gene in B and T cells encounters aprogrammed change upon T-cell activation, which predominantlyproduces full-length, membrane bound isoforms, and is thought to beinvolved in controlling lymphocyte proliferation induced by T-cellactivation. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10938R-HRP)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a member of theTNF-receptor superfamily. This receptor is expressed preferentiallyin the tissues enriched in lymphocytes, and it may play a role inregulating lymphocyte homeostasis. This receptor has been shown tostimulate NF-kappa B activity and regulate cell apoptosis. Thesignal transduction of this receptor is mediated by various deathdomain containing adaptor proteins. Knockout studies in micesuggested the role of this gene in the removal of self-reactive Tcells in the thymus. Multiple alternatively spliced transcriptvariants of this gene encoding distinct isoforms have beenreported, most of which are potentially secreted molecules. Thealternative splicing of this gene in B and T cells encounters aprogrammed change upon T-cell activation, which predominantlyproduces full-length, membrane bound isoforms, and is thought to beinvolved in controlling lymphocyte proliferation induced by T-cellactivation. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3274R-CY5.5)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10938R-FITC)
Fournisseur:
Bioss
Description:
The protein encoded by this gene is a member of theTNF-receptor superfamily. This receptor is expressed preferentiallyin the tissues enriched in lymphocytes, and it may play a role inregulating lymphocyte homeostasis. This receptor has been shown tostimulate NF-kappa B activity and regulate cell apoptosis. Thesignal transduction of this receptor is mediated by various deathdomain containing adaptor proteins. Knockout studies in micesuggested the role of this gene in the removal of self-reactive Tcells in the thymus. Multiple alternatively spliced transcriptvariants of this gene encoding distinct isoforms have beenreported, most of which are potentially secreted molecules. Thealternative splicing of this gene in B and T cells encounters aprogrammed change upon T-cell activation, which predominantlyproduces full-length, membrane bound isoforms, and is thought to beinvolved in controlling lymphocyte proliferation induced by T-cellactivation. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0542R-A750)
Fournisseur:
Bioss
Description:
The cell division control protein cdc2, also known as cyclin dependent kinase 1 (Cdk1) or p34/cdk1, plays a key role in the control of the eukaryotic cell cycle, where it is required for entry into S phase and mitosis. Cdc2 exists as a complex with both cyclin A and cyclin B. The best characterised of these associations is the Cdc2 p34 cyclin B complex, which is required for the G2 to M phase transition. Activation of Cdc2 is controlled at several steps including cyclin binding and phosphorylation of threonine 161. However, the critical regulatory step in activating cdc2 during progression into mitosis appears to be dephosphorylation of Tyr15 and Tyr14. Phosphorylation at Tyr15 and inhibition of Cdc2 is carried out by WEE1 and MIK protein kinases while Tyr15 dephosphorylation and activation of Cdc2 is carried out by the cdc25 phosphatase. The isoform CDC2deltaT is found in breast cancer tissues. Furthermore, cdc2/Cdk1 is a key mediator of neuronal cell death in brain development and degeneration.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15175R-A555)
Fournisseur:
Bioss
Description:
C3orf34 (chromosome 3 open reading frame 34), also known as MGC14126, is a 163 amino acid protein encoded by a gene that maps to human chromosome 3q29. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11027R-A488)
Fournisseur:
Bioss
Description:
NKHC1 is a neuronal-specific component of a multi-subunit “molecular motor†complex that mediates intracellular organelle transport. Mutations in the gene encoding NKHC1 cause autosomal dominant spastic paraplegia 10. NKHC1 has a pan-neuronal distribution in the nervous system. Rat tissue extracts by immunoblot of NKHC1 can produce a doublet only in brain and sciatic nerve tissue. NKHC1 is distributed throughout the central nervous system and is enriched in subsets of neurons. Within cultured hippocampal neurons, NKHC1 is concentrated in the perinuclear region of the cell body. Kinesin superfamily proteins like NKHC1 are the molecular motors conveying cargos along microtubules.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6921R-A555)
Fournisseur:
Bioss
Description:
Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it acts as a central scaffold protein that assembles the various components of the BRCA1-A complex and mediates the recruitment of BRCA1.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11027R-A350)
Fournisseur:
Bioss
Description:
NKHC1 is a neuronal-specific component of a multi-subunit “molecular motor†complex that mediates intracellular organelle transport. Mutations in the gene encoding NKHC1 cause autosomal dominant spastic paraplegia 10. NKHC1 has a pan-neuronal distribution in the nervous system. Rat tissue extracts by immunoblot of NKHC1 can produce a doublet only in brain and sciatic nerve tissue. NKHC1 is distributed throughout the central nervous system and is enriched in subsets of neurons. Within cultured hippocampal neurons, NKHC1 is concentrated in the perinuclear region of the cell body. Kinesin superfamily proteins like NKHC1 are the molecular motors conveying cargos along microtubules.
UOM:
1 * 100 µl
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