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The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
[中文简述(自动翻译):]  的支链α-酮酸脱氢酶复合物(BCKD)是缬氨酸,亮氨酸和异亮氨酸代谢途径的重要调节器。由该基因编码的蛋白质在线粒体,在那里它磷酸化并失活BCKD被发现。已发现该基因编码不同亚型的几个抄本变形。 [由RefSeq的,2012年12月提供]
BCKDK基因(以及对应的蛋白质)的细胞分布位置:
BCKDK基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY | 0.44 | 2 | 2 | CLINVAR_MGD_ORPHANET_UNIPROT |
Parkinson Disease | 0.12 | 1 | 1 | GWASCAT |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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