| Entrez gene ID | | 375298 |
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| Official gene symbol | | CERKL |
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| Full name | | ceramide kinase-like |
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| Aliases | | ,RP26, |
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| Gene summary | | 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. |
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| Location | | Chromosome: 2 Locus: 2q31.3 |
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| Gene position | | 182521834 - 182401399 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 120436 bp |
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| Gene sequence |
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| OMIM ID | | 608381 |
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