人 HADH (NM_005327) cDNA克隆

Accession: NM_005327
基因名称: HADH
基因别名: HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
基因描述: Homo sapiens hydroxyacyl-CoA dehydrogenase (HADH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 945 (查看编码区序列)
翻译后氨基酸长度: 314 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
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G147577 人 HADH (NM_005327) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]