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Description

The CERKL gene (ceramide kinase-like) [HGNC Gene ID:21699] is located on chromosome 2q31.3. This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010] [NCBI Gene ID:375298] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CERKL gene
Part Display Name
CERKL gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-02-04
Construct for LOINC Short Name
CERKL

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP189385-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CERKL 基因
Synonyms: 神经酰胺激酶样蛋白;视网膜色素变性（色素性视网膜炎、视网膜色素病变） 26 (常染色体隐性（常染色体隐性遗传）);神经酰胺激酶样;RP26;ceramide kinase-like protein;retinitis pigmentosa 26 (autosomal recessive);ceramide kinase-like
es-ESSpanish (Spain)Gen CERKL
it-ITItalian (Italy)CERKL, gene
Synonyms: Gene CERKL
tr-TRTurkish (Turkey)CERKL geni
nl-NLDutch (Netherlands)CERKL-gen
Synonyms: CERKL gen
fr-FRFrench (France)CERKL gène
pl-PLPolish (Poland)CERKL gen
Synonyms: Gen CERKL
el-GRGreek (Greece)Γονίδιο CERKL
Synonyms: Γονίδιο CERKL