人 EHHADH (NM_001166415) cDNA克隆

Accession: NM_001166415
基因名称: EHHADH
基因别名: LBP; ECHD; LBFP; PBFE; L-PBE
基因描述: Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1884 (查看编码区序列)
翻译后氨基酸长度: 627 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
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G122788 人 EHHADH (NM_001166415) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]