Ceramide Kinase-Like

Alternative Names

  • CERKL

Associated Diseases

Retinitis Pigmentosa 26
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OMIM Number

608381

NCBI Gene ID

375298

Uniprot ID

Q49MI3

Length

143,994 bases

No. of Exons

14

No. of isoforms

8

Protein Name

Ceramide Kinase-Like Protein

Molecular Mass

62622 Da

Amino Acid Count

558

Genomic Location

chr2:181,536,671-181,657,106

Gene Map Locus
2q31.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001030311.2:c.999C>ASaudi ArabiaNC_000002.12:g.181548832G>TPathogenicPathogenicRetinitis Pigmentosa 26NG_021178.2:g.113276C>A; NM_001030311.2:c.999C>A; NP_001025482.1:p.Cys333Ter755238456979002
NM_201548.5:c.238+1G>AUnited Arab EmiratesNC_000002.12:g.181656768C>TPathogenicLikely PathogenicRetinitis Pigmentosa 26NM_201548.5:c.238+1G>A1276597208812266
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