LP189380-1
RPGRIP1 gene
Active
Description
The RPGRIP1 gene (retinitis pigmentosa GTPase regulator interacting protein 1) [HGNC Gene ID:13436] is located on chromosome 14q11. This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] [NCBI Gene ID:57096] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- RPGRIP1 gene
- Part Display Name
- RPGRIP1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-04
- Construct for LOINC Short Name
- RPGRIP1
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RPGRIP1 基因 Synonyms: 视网膜色素变性（色素性视网膜炎、 |
| es-ES | Spanish (Spain) | Gen RPGRIP1 |
| it-IT | Italian (Italy) | RPGRIP1, gene Synonyms: Gene RPGRIP1 |
| tr-TR | Turkish (Turkey) | RPGRIP1 geni |
| nl-NL | Dutch (Netherlands) | RPGRIP1-gen Synonyms: RPGRIP1 gen |
| fr-FR | French (France) | RPGRIP1 gène |
| pl-PL | Polish (Poland) | RPGRIP1 gen Synonyms: Gen RPGRIP1 |
| el-GR | Greek (Greece) | Γονίδιο RPGRIP1 Synonyms: Γονίδιο RPGRIP1 |
LOINC Copyright
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