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Bioss
Numéro de catalogue:
(BOSSBS-8225R-CY7)
Fournisseur:
Bioss
Description:
FAM168A is a 244 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11, which makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and ∫ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9737R-HRP)
Fournisseur:
Bioss
Description:
The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. EDRF1 (erythroid differentiation-related factor 1), also known as C10orf137 (chromosome 10 open reading frame 137), is a 1,238 amino acid protein containing two TPR repeats. Localizing to nucleus, EDRF1 is involved in transcriptional activation of globin genes by regulating DNA-binding activity of GATA-1 transcription factor. EDRF1 may also play an important role in organ development and histological differentiation. EDRF1 exists as four alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 10q26.13.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9355R-A488)
Fournisseur:
Bioss
Description:
The gene encodes a 246-amino acid polypeptide containing an RNA binding motif, a putative nuclear localization signal, and phosphorylation sites. The alpha subunits comprises the outer rings of the proteasome. Some alpha subunits contain a functional nuclear localization signal; proteasomes are found in both the nuclear and cytoplasmic compartments of the cell. Alpha subunits may constitute a physical barrier that limits access of cytosolic proteins into the inner proteolytic chamber.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15149R-FITC)
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-10341R-A750)
Fournisseur:
Bioss
Description:
This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyses the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15149R-CY3)
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-1257R-CY7)
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-12578R-FITC)
Fournisseur:
Bioss
Description:
BCL2 is an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants (alpha and beta) produced by alternate splicing, differ in their C-terminal ends. BCL2 suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. It regulates cell death by controlling the mitochondrial membrane permeability. It appears to function in a feedback loop system with caspases. BCL2 inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF1). It can form homodimers, and heterodimers with BAX, BAD, BAK and BclX(L). Heterodimerization with BAX requires intact BH1 and BH2 domains, and is necessary for anti-apoptotic activity. Also interacts with APAF1, RAF1, TP53BP2, BBC3, BCL2L1 and BNIPL
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-8196R-A488)
Fournisseur:
Bioss
Description:
FAM55D
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9491R-A750)
Fournisseur:
Bioss
Description:
The SOSS (Sensor of single-strand DNA) complex consists of multiple proteins that promote DNA repair and G2/M checkpoint downstream of the MRN (Mre11, Rad50 and Nbs1) complex. The complex is composed of SSBP1, INTS3 and C9orf80. Specifically, the SOSS complex binds to ssDNA at DNA lesions that influences diverse endpoints in the cellular DNA damage response. The complex is required for efficient homologous recombination-dependent repair of double-stranded breaks and ATM-dependent Signalling pathways. C9orf80, also known as SOSS complex subunit C and Single-stranded DNA-binding protein-interacting protein 1 (SSBIP1), is a 104 amino acid nuclear protein that is a component of the SOSS complex. Upon DNA damage, C9orf80 along with other components of the SOSS complex migrate to the nucleus. There are two isoforms of C9orf80 that are produced as a result of alternative splicing events.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9549R-A750)
Fournisseur:
Bioss
Description:
Chromosome 3 is made up of about 214 million bases encoding over 1100 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 tumour 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-11747R-A680)
Fournisseur:
Bioss
Description:
Possible role in intracellular Signalling and cytoskeleton dynamics at the Golgi.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15091R-A488)
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-11030R-CY3)
Fournisseur:
Bioss
Description:
Retinitis pigmentosa 1 is a novel 2,156 amino acid oxygen-regulated photoreceptor specific to retina. Originally named ORP1 (for 'oxygen-regulated protein-1'), the expression of retinitis pigmentosa 1 has been found to be regulated by oxygen levels in the retina. Mutation of the retinitis pigmentosa 1 gene causes dominant retinitis pigmentosa which leads to degeneration of retinal photoreceptor cells and symptoms such as night vision blindness and deficits in the midperipheral visual field. Retinitis pigmentosa 1 may assist in differentiation of photoreceptor cells and has been identified in the cilia of photoreceptors, possibly aiding in both cilial structure and protein transport between inner and outer segments of photoreceptors. Retinitis pigmentosa 1 contains two doublecortin domains and is encoded by a gene which maps to human chromosome 8q11-q13.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11030R-CY5)
Fournisseur:
Bioss
Description:
Retinitis pigmentosa 1 is a novel 2,156 amino acid oxygen-regulated photoreceptor specific to retina. Originally named ORP1 (for 'oxygen-regulated protein-1'), the expression of retinitis pigmentosa 1 has been found to be regulated by oxygen levels in the retina. Mutation of the retinitis pigmentosa 1 gene causes dominant retinitis pigmentosa which leads to degeneration of retinal photoreceptor cells and symptoms such as night vision blindness and deficits in the midperipheral visual field. Retinitis pigmentosa 1 may assist in differentiation of photoreceptor cells and has been identified in the cilia of photoreceptors, possibly aiding in both cilial structure and protein transport between inner and outer segments of photoreceptors. Retinitis pigmentosa 1 contains two doublecortin domains and is encoded by a gene which maps to human chromosome 8q11-q13.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1619R-A488)
Fournisseur:
Bioss
Description:
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD). Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.
UOM:
1 * 100 µl
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