CERKL ceramide kinase like
Gene ID: 375298, updated on 5-Mar-2024Gene type: protein coding
Also known as: RP26
- See all available tests in GTR for this gene
- Go to complete Gene record for CERKL
- Go to Variation Viewer for CERKL variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available | |
| Retinitis pigmentosa 26 | See labs |
| Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 2q31.3
- Sequence:
- Chromosome: 2; NC_000002.12 (181536672..181657105, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CERKL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CERKL database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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