Description
Product Characteristics:
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. The C7orf28 gene product has been provisionally designated C7orf28 pending further characterization.
Synonyms: C7orf28A, CCZ1 vacuolar protein trafficking and biogenesis associated homolog S. cerevisiae, CCZ1A, CGI-43, H_DJ1163J12.2, Vacuolar fusion protein CCZ1 homolog, CCZ1_HUMAN.
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