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The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因的产物的支链氨基酸的降解过程中催化D-和L-甲基丙二酰-CoA的相互转换。奇数链长度的脂肪酸,以及其它代谢物。这个基因导致甲基丙二酸单酰辅酶A异构酶缺乏,其中的突变是作为轻度至中度甲基丙二酸尿症。 [由RefSeq的,2008年7月提供]
MCEE基因(以及对应的蛋白质)的细胞分布位置:
MCEE基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Methylmalonyl-CoA Epimerase Deficiency | 0.36 | 0 | 1 | CLINVAR_CTD_human_ORPHANET |
Methylmalonic acidemia | 0.000814326 | 3 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
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