Description

The CLN5 gene (ceroid-lipofuscinosis, neuronal 5) [HGNC Gene ID:2076] is located on chromosome 13q22.3. This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008] [NCBI Gene ID:1203] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CLN5 gene
Part Display Name
CLN5 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
CLN5

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208410-3

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CLN5 基因
Synonyms: 蜡样脂质褐质沉积病, 神经元 5;蛋白 CLN5;Ceroid-Lipofuscinosis, Neuronal 5;Protein CLN5;NCL
es-ESSpanish (Spain)Gen CLN5
it-ITItalian (Italy)CLN5, gene
Synonyms: Gene CLN5
nl-NLDutch (Netherlands)CLN5-gen
Synonyms: CLN5 gen
fr-FRFrench (France)CLN5 gène
pl-PLPolish (Poland)CLN5 gen
Synonyms: Gen CLN5
el-GRGreek (Greece)Γονίδιο CLN5
Synonyms: Γονίδιο CLN5