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Description

The HPRT1 gene (hypoxanthine phosphoribosyltransferase 1) [HGNC Gene ID:5157] is located on chromosome Xq26.1. The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009] [NCBI Gene ID:3251] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
HPRT1 gene
Part Display Name
HPRT1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
HPRT1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71427-6
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)HPRT1 基因
Synonyms: 次黄嘌呤磷酸核糖基转移酶;次黄嘌呤磷酸核糖转移酶;Hypoxanthine-guanine phosphoribosyltransferase;次黄嘌呤鸟嘌呤磷酸核糖基转移酶;次黄嘌呤鸟嘌呤磷酸核糖转移酶HGPRT;HPRT;hypoxanthine phosphoribosyltransferase 1
et-EEEstonian (Estonia)HPRT1 geen
es-ESSpanish (Spain)Gen HPRT1
it-ITItalian (Italy)HPRT1, gene
Synonyms: Gene HPRT1
tr-TRTurkish (Turkey)HPRT1 geni
ru-RURussian (Russian Federation)HPRT1 ген
nl-NLDutch (Netherlands)HPRT1-gen
Synonyms: HPRT1 gen
fr-FRFrench (France)HPRT1 gène
pl-PLPolish (Poland)HPRT1 gen
Synonyms: Gen HPRT1
el-GRGreek (Greece)Γονίδιο HPRT1
Synonyms: Γονίδιο HPRT1