- accession:NM_183050
- 基因别名:BCKDHB
- 基因描述:Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:1179
- 翻译后氨基酸长度:392
- TranscriptVariant:This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
- 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]
- 载体信息:自有图片地址
- 规格:10ul 质粒
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