LP189381-9
RPGR gene
Active
Description
The RPGR gene (retinitis pigmentosa GTPase regulator) [HGNC Gene ID:10295] is located on chromosome Xp21.1. This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008] [NCBI Gene ID:6103] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- RPGR gene
- Part Display Name
- RPGR gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-04
- Construct for LOINC Short Name
- RPGR
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RPGR 基因 Synonyms: 视网膜色素变性（色素性视网膜炎、 |
| es-ES | Spanish (Spain) | Gen RPGR |
| it-IT | Italian (Italy) | RPGR, gene Synonyms: Gene RPGR |
| tr-TR | Turkish (Turkey) | RPGR geni |
| nl-NL | Dutch (Netherlands) | RPGR-gen Synonyms: RPGR gen |
| fr-FR | French (France) | RPGR gène |
| pl-PL | Polish (Poland) | RPGR gen Synonyms: Gen RPGR |
| el-GR | Greek (Greece) | Γονίδιο RPGR Synonyms: Γονίδιο RPGR |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://