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This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  该基因编码的依赖NAD的甘油-3-磷酸脱氢酶家族的一个成员。所编码的蛋白质通过催化磷酸二羟丙酮(DHAP),并减少尼古丁腺嘌呤二核苷酸(NADH)为甘油-3-磷酸(G3P)和NAD +的可逆转换起着碳水化合物和脂质代谢的关键作用。所编码的胞质蛋白和线粒体甘油-3-磷酸脱氢酶也可以形成一个甘油磷酸穿梭便于从细胞质到线粒体还原当量的转移。在这个基因的突变是瞬时婴儿血症的原因。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年3月提供]
GPD1基因(以及对应的蛋白质)的细胞分布位置:
GPD1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE | 0.36 | 1 | 0 | CLINVAR_ORPHANET_UNIPROT |
Diabetes Mellitus, Non-Insulin-Dependent | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Hepatomegaly | 0.000271442 | 1 | 0 | BeFree |
Maturity onset diabetes mellitus in young | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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