人 PHEX (NM_001282754) cDNA克隆

基本信息

Accession: NM_001282754
基因名称: PHEX
基因别名: HYP; PEX; XLH; HPDR; HYP1; LXHR; HPDR1
基因描述: Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2088 (查看编码区序列)
翻译后氨基酸长度: 695 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G154213 人 PHEX (NM_001282754) 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 PHEX (NM_000444) cDNA克隆 transcript variant 1
人 PHEX (NM_001282754) cDNA克隆 transcript variant 2

基因简介

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

相关产品