人 HSD17B4 (NM_000414) cDNA克隆

Accession: NM_000414
基因名称: HSD17B4
基因别名: DBP; MFE-2; MPF-2; PRLTS1; SDR8C1
基因描述: Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2211 (查看编码区序列)
翻译后氨基酸长度: 736 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
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G112753 人 HSD17B4 (NM_000414) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. [provided by RefSeq, Jul 2008]