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This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码3-甲基巴豆酰辅酶A羧化酶的小亚基。这种酶用作异二聚体和催化3-甲基巴豆酰-CoA的羧化以形成3- methylglutaconyl酰-CoA。在这种基因突变与3- Methylcrotonylglycinuria,亮氨酸分解代谢的一种常染色体隐性病症相关。 [由RefSeq的,2008年7月提供]
MCCC2基因(以及对应的蛋白质)的细胞分布位置:
MCCC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
3-methylcrotonyl CoA carboxylase 2 deficiency | 0.36 | 3 | 17 | CLINVAR_CTD_human_UNIPROT |
3-methylcrotonyl CoA carboxylase 1 deficiency | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
Subarachnoid Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Dental caries | 0.000271442 | 1 | 0 | BeFree |
Propionic acidemia | 0.000271442 | 1 | 0 | BeFree |
Caries (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
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