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The official name of this gene is “ceramide kinase like.”
CERKL is the gene's official symbol. The CERKL gene is also known by other names, listed below.
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]
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
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. The disease is caused by mutations affecting the gene represented in this entry.
|608380 (http://omim.org/entry/608380)||RETINITIS PIGMENTOSA 26|
|608381 (http://omim.org/entry/608381)||CERAMIDE KINASE-LIKE|
Cytogenetic Location: 2q31.3
Molecular Location on chromosome 2: base pairs 181,536,672 to 181,657,107
The CERKL gene is located on the long (q) arm of chromosome 2 at position 31.3.
More precisely, the CERKL gene is located from base pair 181,536,672 to base pair 181,657,107 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CERKL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; apoptosis ; autosomal ; autosomal recessive ; fundus ; gene ; isoforms ; kinase ; locus ; oxidative stress ; peripheral ; photoreceptor ; pigment ; protein ; recessive ; splicing ; stress ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.