CERKL Chromosome 2
CERK like autophagy regulator
Upload your DNA to see your personal genotypes for variants in CERKL.
What This Gene Does
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]
Associated Conditions (21)
Isolated macular dystrophy
Retinal dystrophy
Retinitis pigmentosa 26
Cone-rod dystrophy
Inborn genetic diseases
Retinitis pigmentosa
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
CERKL-related disorder
Acute myeloid leukemia
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Stargardt disease
Autosomal recessive retinitis pigmentosa
Severe photosensitivity
Macular dystrophy
Adult-onset night blindness
Cone dystrophy
Retinal pigment epithelial atrophy
See cases
CERKL-related retinopathy
+1 more conditions
Key Variants
RS1064797278
Conflicting classifications of pathogenicity
Isolated macular dystrophy, Retinal dystrophy, Retinitis pigmentosa 26
Health Risk
RS1201433512
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy
Health Risk
RS1343928865
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Inborn genetic diseases, Retinitis pigmentosa 26
Health Risk
RS1344137236
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
Health Risk
RS139300604
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
Health Risk
RS140898616
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, Malignant tumor of esophagus
Health Risk
RS141389059
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, CERKL-related disorder
Health Risk
RS141656965
Conflicting classifications of pathogenicity
Retinitis pigmentosa, CERKL-related disorder, Retinitis pigmentosa
Health Risk
RS145489428
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, Inborn genetic diseases
Health Risk
RS146279858
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Inborn genetic diseases, Retinitis pigmentosa 26
Health Risk
RS146913105
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS1481841151
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (200)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1026405158 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 26, Retinitis pigmentosa 26 |
| RS1187991259 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 26, Retinitis pigmentosa 26 |
| RS1210539710 | Health Risk | Pathogenic | — |
| RS1238123416 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy |
| RS1269787346 | Health Risk | Pathogenic | — |
| RS1294330944 | Health Risk | Pathogenic | — |
| RS1347692516 | Health Risk | Pathogenic | — |
| RS1372680068 | Health Risk | Pathogenic | — |
| RS1400346403 | Health Risk | Pathogenic | — |
| RS1559072042 | Health Risk | Pathogenic | — |
| RS1574077466 | Health Risk | Pathogenic | Retinitis pigmentosa 26, Retinitis pigmentosa 26 |
| RS1574489337 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS1687367661 | Health Risk | Pathogenic | — |
| RS1687790149 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1687797608 | Health Risk | Pathogenic | — |
| RS1687798117 | Health Risk | Pathogenic | — |
| RS1687838639 | Health Risk | Pathogenic | — |
| RS1689012192 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS188492864 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS201186440 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2105567922 | Health Risk | Pathogenic | — |
| RS2105569222 | Health Risk | Pathogenic | — |
| RS2105569536 | Health Risk | Pathogenic | — |
| RS2105569594 | Health Risk | Pathogenic | — |
| RS2105787237 | Health Risk | Pathogenic | — |
| RS2105797148 | Health Risk | Pathogenic | — |
| RS2105803798 | Health Risk | Pathogenic | — |
| RS2105805670 | Health Risk | Pathogenic | — |
| RS2105820158 | Health Risk | Pathogenic | — |
| RS2105832057 | Health Risk | Pathogenic | — |
| RS2105846669 | Health Risk | Pathogenic | — |
| RS2105846718 | Health Risk | Pathogenic | — |
| RS2105846763 | Health Risk | Pathogenic | — |
| RS2105894081 | Health Risk | Pathogenic | — |
| RS2105894253 | Health Risk | Pathogenic | — |
| RS2468269204 | Health Risk | Pathogenic | — |
| RS2468292203 | Health Risk | Pathogenic | — |
| RS2468295519 | Health Risk | Pathogenic | Retinitis pigmentosa 26, Retinitis pigmentosa 26 |
| RS2468295626 | Health Risk | Pathogenic | — |
| RS2468295898 | Health Risk | Pathogenic | — |
| RS2468317889 | Health Risk | Pathogenic | — |
| RS2468336455 | Health Risk | Pathogenic | — |
| RS2468336585 | Health Risk | Pathogenic | — |
| RS2468354584 | Health Risk | Pathogenic | — |
| RS2468354845 | Health Risk | Pathogenic | — |
| RS2468432613 | Health Risk | Pathogenic | — |
| RS2468432758 | Health Risk | Pathogenic | — |
| RS2468433273 | Health Risk | Pathogenic | — |
| RS2468581605 | Health Risk | Pathogenic | — |
| RS2468583114 | Health Risk | Pathogenic | — |