RPGRIP1 gene

RPGR interacting protein 1

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

From NCBI Gene:

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

From UniProt:

May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leber congenital amaurosis 6
  • Cone-rod dystrophy 13

From UniProt:

Cone-rod dystrophy 13 (CORD13): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. [MIM:608194]

Leber congenital amaurosis 6 (LCA6): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. [MIM:613826]

Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons (PubMed:21224891).

Cytogenetic Location: 14q11.2, which is the long (q) arm of chromosome 14 at position 11.2

Molecular Location: base pairs 21,287,977 to 21,351,316 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q11.2, which is the long (q) arm of chromosome 14 at position 11.2
  • CORD13
  • LCA6
  • RGI1
  • RPGRIP1d