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Peptide sequence: ASVKNQFNFP FVETYTVEEV KVHPRNNTGG YNPEEEEDET ASENCFPWNV
Sequence homology: Dog: 90%; Guinea Pig: 79%; Horse: 79%; Human: 100%; Mouse: 79%; Rabbit: 81%; Rat: 79%; Yeast: 89%; Zebrafish: 79%
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].
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ceramide kinase-like; Ceramide kinase-like protein
Gene Aliases: CERKL; RP26
UniProt ID: (Human) Q49MI3
Entrez Gene ID: (Human) 375298
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