- 商品货号:F157054
- accession:NM_000709
- 基因别名:BCKDHA
- 基因描述:Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:1338
- 翻译后氨基酸长度:445
- TranscriptVariant:This variant (1) represents the longest transcript and encodes the longest isoform (1).
- 基因简介: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]
- 载体信息:自有图片地址
- 规格:10ul 质粒
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