鍩哄洜鍚嶏細

DPY19L1

浜у搧鍒悕锛欬p style="text-indent: 2em;">DPY19L1锛 dpy-19 like C-mannosyltransferase 1锛 dpy-19 like C-mannosyltransferase 1锛 probable C-mannosyltransferase DPY19L1锛 DPY-19-like protein 1锛 protein dpy-19 homolog 1锛 鐭矖鐭儢19铔嬬櫧鏍?锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">Dpy-19 (dumpy-19), is a 683 amino acid C. elegans protein that is required to orient the neuroblasts QL and QR correctly on the anterior/posterior axis. Dpy-19 is expressed highly in dorsal hyp7 cells, ventral P cells and lateral V cells, and dorsal and ventral body muscle cells. DPY19L1 (Dpy-19-like protein 1), also known as KIAA0877, is a 675 amino acid multi-pass membrane protein that belongs to the Dpy-19 family. DPY19L1 is expressed as two isoforms produced by alternative splicing and is encoded by a gene mapping to human chromosome 7, which encodes over 1,000 genes and makes up about 5% of the human genome. Diseases associated with chromosome 7 include 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.