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Rabbit Anti-CCDC126 antibody
CCDC126 is a 140 amino acid secreted protein encoded by a gene mapping to human chromosome 7. Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. 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 characterized 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.
Subcellular Location:
Secreted.
SWISS:
Q96EE4
Gene ID:
90693
Database links:
Entrez Gene: 90693 Human
SwissProt: Q96EE4 Human
Unigene: 232296 Human
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