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The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  的支链α-酮酸(BCAA)脱氢酶(BCKD)配合物是innter线粒体酶复合物催化的支链氨基酸亮氨酸,异亮氨酸和缬氨酸的分解代谢的第二个主要步骤。所述BCKD复杂由三个催化组分组成:异四聚体(α2-β2)支链α-酮酸脱羧酶(E1)中,二氢硫辛酸transacylase(E2),和一个二氢硫辛酰胺脱氢酶(E3)。该基因编码的脱羧酶(E1)成分的α亚基。突变这个基因导致枫糖尿症,IA型。多个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2009年09月提供]
BCKDHA基因(以及对应的蛋白质)的细胞分布位置:
BCKDHA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Maple Syrup Urine Disease | 0.490801593 | 19 | 25 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT |
Classic Maple Syrup Urine Disease | 0.12 | 0 | 0 | ORPHANET |
Intermittent Maple Syrup Urine Disease | 0.12 | 0 | 0 | ORPHANET |
Intermediate Maple Syrup Urine Disease | 0.12 | 0 | 0 | ORPHANET |
Maple Syrup Urine Disease, Type IA | 0.12 | 0 | 6 | CLINVAR |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Sarcoma | 0.000542884 | 2 | 0 | BeFree |
Xeroderma Pigmentosum | 0.000271442 | 1 | 0 | BeFree |
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