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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP189387-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)LCA5 基因
Synonyms: Leber先天性黑蒙(Leber氏黑矇、莱伯氏先天性黑蒙、赖伯氏先天性黑蒙、先天性黑朦、莱伯氏先天性黑内障) 5;Leber Congenital Amaurosis 5
es-ESSpanish (Spain)Gen LCA5
it-ITItalian (Italy)LCA5, gene
Synonyms: Gene LCA5
tr-TRTurkish (Turkey)LCA5 geni
nl-NLDutch (Netherlands)LCA5-gen
Synonyms: LCA5 gen
fr-FRFrench (France)LCA5 gène
pl-PLPolish (Poland)LCA5 gen
Synonyms: Gen LCA5
el-GRGreek (Greece)Γονίδιο LCA5
Synonyms: Γονίδιο LCA5