人 PHYH (NM_001037537) cDNA克隆

基本信息

Accession: NM_001037537
基因名称: PHYH
基因别名: RD; LN1; PAHX; LNAP1; PHYH1
基因描述: Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 2, mRNA.
种属: Human
CDS区长度: 717 (查看编码区序列)
翻译后氨基酸长度: 238 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream ATG and result in an isoform (b) with a shorter N-terminus compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G106009 人 PHYH (NM_001037537) 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 PHYH (NM_006214) cDNA克隆 transcript variant 1
人 PHYH (NM_001037537) cDNA克隆 transcript variant 2

基因简介

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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