COL26A1 (EMID2) is a 441 amino acid protein encoded by a gene mapping to human chromosome 7. Chromosome 7 is approximately 158 milllion bases long, encodes over 1,000 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.
Alpha-1 type XXVI collagen; Collagen alpha-1(XXVI) chain; collagen, type XXVI, alpha 1; EMI domain containing 2; EMI domain-containing protein 2; Emilin and multimerin domain-containing protein 2; Emu2