Version 2.80

Description

The PHEX gene (phosphate regulating endopeptidase homolog, X-linked) [HGNC Gene ID:8918] is located on chromosome Xp22.2-p22.1. 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] [NCBI Gene ID:5251] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
PHEX gene
Part Display Name
PHEX gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
PHEX gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71435-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP71435-9

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PHEX
it-IT Italian (Italy) PHEX, gene
Synonyms: Gene PHEX
et-EE Estonian (Estonia) PHEX geen
tr-TR Turkish (Turkey) PHEX geni
zh-CN Chinese (China) PHEX 基因
Synonyms: HPDR;HPDR1;HYP;HYP1;PEX;XLH;phosphate regulating endopeptidase homolog, X-linked;PHEX;磷酸调控内肽酶同源物, X 连锁;磷酸调控内肽酶同系物, X 连锁
ru-RU Russian (Russian Federation) PHEX ген
nl-NL Dutch (Netherlands) PHEX-gen
Synonyms: PHEX gen
el-GR Greek (Greece) Γονίδιο PHEX
Synonyms: Γονίδιο PHEX