CERKL wt Allele

Preferred Label : CERKL wt Allele;

NCIt synonyms : Retinitis Pigmentosa 26 Gene; RP26; Retinitis Pigmentosa 26 (Autosomal Recessive) Gene; Ceramide Kinase-like Gene; Ceramide Kinase Like wt Allele;

NCIt definition : Human CERKL wild-type allele is located in the vicinity of 2q31.3 and is approximately 144 kb in length. This allele, which encodes ceramide kinase-like protein, is involved in protecting cells from apoptosis in oxidative stress conditions.;

NCIt note : Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD).;

GenBank Accession Number : NR_027690;

Details

Origin ID

C104123;

UMLS CUI

C3541981;

OMIM relation
- Ceramide kinase-like [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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