人 GCDH (NM_013976) cDNA克隆

基本信息

Accession: NM_013976
基因名称: GCDH
基因别名: GCD; ACAD5
基因描述: Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1287 (查看编码区序列)
翻译后氨基酸长度: 428 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks a segment that results in a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (b, also known as the short isoform) has a distinct and shorter C-terminus, compared to isoform a. This variant lacks publicly available transcript support but is supported by data in PubMed ID:8541831.

订购信息

产品编号 产品名称 载体 规格 价格
G101917 人 GCDH (NM_013976) 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 GCDH (NM_000159) cDNA克隆 transcript variant 1
人 GCDH (NM_013976) cDNA克隆 transcript variant 2

基因简介

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]

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