基因名:
MINDY4
产品别名:
AQP-1; AQP1; C7orf67; CHIP28; FAM188B; MINDY4; MINDY lysine 48 deubiquitinase 4; MINDY lysine 48 deubiquitinase 4; probable ubiquitin carboxyl-terminal hydrolase MINDY-4; Aquaporin-1; Aquaporin-CHIP; MINDY deubiquitinase 4; Urine water channel; Water channel protein for red blood cells and kidney proximal tubule; family with sequence similarity 188 member B; probable deubiquitinating enzyme MINDY-4; probable ubiquitin carboxyl-terminal hydrolase FAM188B; protein FAM188B; FAM188B蛋白;
背景信息:
FAM188B is a 757 amino acid protein this is encoded by a gene that maps 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.