XB-FEAT-1007973

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rpgrip1

This is the community wiki page for the gene rpgrip1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

07/31/2017 Human name has changed for Entrez Gene: 57096. From retinitis pigmentosa GTPase regulator interacting protein 1 to RPGR interacting protein 1

summary from NCBI

In Humans: 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]

Human gene-disease associations

1. OMIM # 613826. LEBER CONGENITAL AMAUROSIS 6; LCA6

2. OMIM # # 608194. CONE-ROD DYSTROPHY 13; CORD13