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CERKL 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 Name: | ceramide kinase-like |
Synonyms: | CERKL, Ceramide kinase-like, Ceramide kinase-like protein, RP26 |
Target Sequences: | Q49MI3 Q49MI3 |
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