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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CERKL-20-RE | 20 (40 μL) | 200 μL |  |
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| CERKL-20-OR | 20 (40 μL) | 200 μL |  |
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| CERKL-20-GO | 20 (40 μL) | 200 μL |  |
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| CERKL-20-GR | 20 (40 μL) | 200 μL |  |
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| CERKL-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CERKL
Gene Name : Ceramide kinase like
Chromosome : CHR 2: 181,657,106-181,536,671
Locus : 2q31.3
Alt. Genes : ARPC2
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