XB-FEAT-1007973: Difference between revisions
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=rpgrip1= | =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 | 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 | |||
Latest revision as of 07:28, 1 August 2017
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