人 BCKDHA (NM_001164783) cDNA克隆

基本信息

Accession: NM_001164783
基因名称: BCKDHA
基因别名: MSU; MSUD1; OVD1A; BCKDE1A
基因描述: Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1335 (查看编码区序列)
翻译后氨基酸长度: 444 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G157055 人 BCKDHA (NM_001164783) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 BCKDHA (NM_000709) cDNA克隆 transcript variant 1
人 BCKDHA (NM_001164783) cDNA克隆 transcript variant 2

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]

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