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The official name of this gene is “chromosome 2 open reading frame 71.”
C2orf71 is the gene's official symbol. The C2orf71 gene is also known by other names, listed below.
The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
May play an important role in the development of normal vision.
Retinitis pigmentosa 54 (RP54): 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.
|613428 (http://omim.org/entry/613428)||RETINITIS PIGMENTOSA 54|
|613425 (http://omim.org/entry/613425)||CHROMOSOME 2 OPEN READING FRAME 71|
Cytogenetic Location: 2p23.2
Molecular Location on chromosome 2: base pairs 29,061,689 to 29,074,260
The C2orf71 gene is located on the short (p) arm of chromosome 2 at position 23.2.
More precisely, the C2orf71 gene is located from base pair 29,061,689 to base pair 29,074,260 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 C2orf71 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.
cilium ; expressed ; fundus ; gene ; lipid ; peripheral ; photoreceptor ; pigment ; protein ; recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.