RPGRIP1
Sign in to saveAlso known as CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, retinitis pigmentosa GTPase regulator interacting protein 1, RPGR interacting protein 1
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
Gene data
RPGRIP1- Name
- RPGR interacting protein 1
- Type
- protein-coding
- Aliases
- CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
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].
via MyGene.info
Wikidata facts
Show 6 more facts
- HomoloGene ID
- 10679
- exact match
- identifiers.org/ncbigene/57096
- genomic end
- 21819460
- genomic start
- 21280083
- cytogenetic location
- 14q11.2
- Commons category
- RPGRIP1
via Wikidata · CC0
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Article
4 sectionsContents
- Interactions
- References
- Further reading
- External links
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
== Interactions ==