NCBI Description of CERKL
|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.|
Community Annotation of CERKL Add / Edit CERKL: Annotations
No community annotations yet for CERKL.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.