Aliases for CERKL Gene
External Ids for CERKL Gene
Previous HGNC Symbols for CERKL Gene
Previous GeneCards Identifiers for CERKL Gene
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]
GeneCards Summary for CERKL Gene
CERKL (Ceramide Kinase-Like) is a Protein Coding gene. Diseases associated with CERKL include retinitis pigmentosa 26 and cerkl-related retinitis pigmentosa. GO annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is SPHK2.
UniProtKB/Swiss-Prot for CERKL Gene
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.