基因名:
GMDS
产品别名:
GMD; SDR3E1; GMDS; GDP-mannose 4,6-dehydratase; GDP-mannose 4,6-dehydratase; GDP-mannose 4,6 dehydratase; GDP-D-mannose dehydratase; short chain dehydrogenase/reductase family 3E, member 1; 甘露糖脱水酶GMDS;
背景信息:
GMD is a 372 amino acid protein that utilizes NADP as a cofactor to catalyze the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose. GMD mutations are involved in resistance to TRAIL (tumor necrosis factor-related apoptosis-inducing ligand)-induced apoptosis. The gene encoding GMD maps to human chromosome 6, which contains 170 million base pairs and comprises nearly 6% of the human genome. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Additionally, Porphyria cutanea tarda, Parkinson's disease, Stickler syndrome and a susceptibility to bipolar disorder are all associated with genes that map to chromosome 6.