LP71427-6
HPRT1 gene
Active
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
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
- 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
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HPRT1 |
it-IT | Italian (Italy) | HPRT1, gene Synonyms: Gene HPRT1 |
et-EE | Estonian (Estonia) | HPRT1 geen |
zh-CN | Chinese (China) | HPRT1 基因 Synonyms: 次黄嘌呤磷酸核糖基转移酶; |
tr-TR | Turkish (Turkey) | HPRT1 geni |
ru-RU | Russian (Russian Federation) | HPRT1 ген |
nl-NL | Dutch (Netherlands) | HPRT1-gen Synonyms: HPRT1 gen |
el-GR | Greek (Greece) | Γονίδιο HPRT1 Synonyms: Γονίδιο HPRT1 |
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