Ceramide Kinase Like Protein (CERKL)

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). The predicted 532-amino acid protein shares 29% identity with ceramide kinase (CERK). Northern blot analysis failed to detect expression of CERKL on 2 panels of several human tissues, suggesting that it is expressed either in nontested tissues or at low levels, in contrast to the higher and more ubiquitous expression of CERK.