C2orf71

chromosome 2 open reading frame 71

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

From NCBI Gene:

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]

From UniProt:

May play an important role in the development of normal vision.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 54

From UniProt:

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. [MIM:613428]

Cytogenetic Location: 2p23.2, which is the short (p) arm of chromosome 2 at position 23.2

Molecular Location: base pairs 29,061,690 to 29,074,261 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p23.2, which is the short (p) arm of chromosome 2 at position 23.2