基因名:
GIMAP2
产品别名:
HIMAP2; IAN12; IMAP2; GIMAP2; GTPase, IMAP family member 2; GTPase, IMAP family member 2; GTPase IMAP family member 2; immune-associated nucleotide-binding protein 12; immunity associated protein 2; GTP酶IMAP家族成员2;
背景信息:
The GTPase of the immunity-associated protein (GIMAP) family of proteins include seven members that are expressed by genes residing on human chromosome 7. GIMAP proteins have been implicated in the regulation of lymphomyeloid cell survival. GIMAP2 (GTPase IMAP family member 2), also known as IMAP2 (immunity-associated protein 2) or HIMAP2, is a 337 amino acid multi-pass membrane protein that is encoded by a gene located on human chromosome 7. Chromosome 7 houses over 1,000 genes and comprises nearly 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.