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Description:
Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf53 gene product has been provisionally designated C7orf53 pending further characterisation.
Description:
May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane.
Description:
Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf53 gene product has been provisionally designated C7orf53 pending further characterisation.
Description:
Extracellular proteases mediate the digestion of neighboring extracellular matrix components in initial tumour growth, allow desquamation of tumour cells into the surrounding environment, provide the basis for invasion of basement membranes in targeted metastatic organs and are required for release and activation of many growth and angiogenic factors. TMPRSS5 (transmembrane protease, serine 5), also known as spinesin, is a 457 amino acid single-pass type II membrane protein that is expressed specifically in brain and is thought to play a role in hearing. A member of the peptidase S1 family, TMPRSS5 contains one peptidase S1 domain and an SRCR domain, and is encoded by a gene that maps to human chromosome 11q23.2. Defects in the gene encoding TMPRSS5 are associated with deafness.
Description:
Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf165 gene product has been provisionally designated C6orf165 pending further characterisation.
Description:
The SHC gene encodes for a signaling and transforming protein containing Src homology 2 and 3 (SH2 and SH3) domains. The SHC gene encodes 2 widely expressed overlapping proteins of 46 and 52 kD, both containing a C-terminal SH2 domain. Adjacent to the SH2 region is a glycine and proline rich region. These 2 proteins differ in their N terminals. SHC proteins are involved in mitogenic signal transduction and act by coupling growth factor receptors to the RAS signaling pathway. The protein encoded by the SHC1 gene is thought to act as an adaptor in many signal transduction pathways.
Description:
SSEA-4 (Stage-specific embryonic antigen 4) is a glycoprotein expressed early in embryonic development and in pluripotent stem cells. SSEA-4 can be used as a marker of Human Embryonic Stem Cells, Human Embryonic Carcinoma Cells and Human Embryonic Germ Cells. Monoclonal antibodies to this target have been widely used in the characterization of pluripotent stem cells. Mouse pluripotent stem cells are not recognised by anti-SSEA-4 antibodies but do express the antigen upon differentiation.
Description:
SSEA-4 (Stage-specific embryonic antigen 4) is a glycoprotein expressed early in embryonic development and in pluripotent stem cells. SSEA-4 can be used as a marker of Human Embryonic Stem Cells, Human Embryonic Carcinoma Cells and Human Embryonic Germ Cells. Monoclonal antibodies to this target have been widely used in the characterization of pluripotent stem cells. Mouse pluripotent stem cells are not recognised by anti-SSEA-4 antibodies but do express the antigen upon differentiation.
Description:
Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf163 gene product has been provisionally designated C6orf163 pending further characterisation.
Description:
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011].
Description:
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011].
Description:
Making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf154 gene product has been provisionally designated C6orf154 pending further characterisation.
Description:
C9orf135 (chromosome 9 open reading frame 135) is a 229 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 9q21.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:
1 * 100 µl
Promotion
,BOSSBS-15312R-CY5EA
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