Gene: CERKL

Alternate names for this Gene: RP26

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.3

Description of this Gene: ceramide kinase like

Type of Gene: protein-coding

rs121909398 in CERKL gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121909398 in CERKL gene and Retinal Dystrophies PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 18978954 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

rs121909398 in CERKL gene and Retinitis Pigmentosa PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 24043777 2013 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 22164218 2011 Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

rs1553513437 in CERKL gene and Retinitis Pigmentosa 26 PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 27874104 2016 Identifying mutations in Tunisian families with retinal dystrophy.

PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

PMID 18978954 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.