LP189387-6
LCA5 gene
Active
Description
The LCA5 gene (Leber congenital amaurosis 5) [HGNC Gene ID:31923] is located on chromosome 6q14.1. This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] [NCBI Gene ID:167691] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- LCA5 gene
- Part Display Name
- LCA5 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-04
- Construct for LOINC Short Name
- LCA5
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) | LCA5 基因 Synonyms: Leber先天性黑蒙(Leber氏黑矇、 |
| es-ES | Spanish (Spain) | Gen LCA5 |
| it-IT | Italian (Italy) | LCA5, gene Synonyms: Gene LCA5 |
| tr-TR | Turkish (Turkey) | LCA5 geni |
| nl-NL | Dutch (Netherlands) | LCA5-gen Synonyms: LCA5 gen |
| fr-FR | French (France) | LCA5 gène |
| pl-PL | Polish (Poland) | LCA5 gen Synonyms: Gen LCA5 |
| el-GR | Greek (Greece) | Γονίδιο LCA5 Synonyms: Γονίδιο LCA5 |
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://