CERKL gene

ceramide kinase like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 26

From UniProt:

Retinitis pigmentosa 26 (RP26): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:608380]

Cytogenetic Location: 2q31.3, which is the long (q) arm of chromosome 2 at position 31.3

Molecular Location: base pairs 181,536,672 to 181,657,107 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31.3, which is the long (q) arm of chromosome 2 at position 31.3