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).
Immunogen Information
Immunogen
Synthetic peptide of human CERKL
Swissprot
Q49MI3
Synonyms
Ceramide kinase like proteinCeramide kinase-like proteinCERKLCERKLRetinitis pigmentosa 26 (autosomal recessive)RP26