人 BCKDHB (NM_000056) cDNA克隆

基本信息

Accession: NM_000056
基因名称: BCKDHB
基因别名: E1B; dJ279A18.1
基因描述: Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1179 (查看编码区序列)
翻译后氨基酸长度: 392 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing a segment in the 3' UTR compared to transcript variant 1, and thus has a shorter 3' UTR. Both variants 1 and 2 encode the same protein.

订购信息

产品编号 产品名称 载体 规格 价格
G120757 人 BCKDHB (NM_000056) 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 BCKDHB (NM_183050) cDNA克隆 transcript variant 1
人 BCKDHB (NM_000056) cDNA克隆 transcript variant 2

基因简介

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

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