| Symbol: Name: ID: |
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 GFS:3021 |
| Gene name: | RPGRIP1 |
| Chromosome: | 14q11 |
| Previous Symbols: | RPGRIP |
| Previous Names: | |
| Aliases: | RGI1, LCA6 |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1932134 | Rat Genome Database ID: | RGD:1310807 |
| HGNC ID: | HGNC:13436 | RefSeq IDs: | NM_020366 |
| Entrez Gene ID: | 57096 | Ensembl Gene ID: | ENSG00000092200 |
| VEGA IDs: | UniProt ID: | Q96KN7 | |
| UCSC ID: | uc001wag.2 | OMIM ID: | 605446 |
| Pubmed: | PMID10958647 PMID 10958648 | ||
| CCDS IDs: | CCDSCCDS45080.1 | ||
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is an enzyme that in humans is encoded by the RPGRIP1 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity).
Products for RPGRIP1 gene
| Catalog | Product Name | Application | Company |
| GFS:E03021 | retinitis pigmentosa GTPase regulator interacting protein 1; ELISA kit | ELISA | n/a |
| GFS:A03021 | retinitis pigmentosa GTPase regulator interacting protein 1; Anti | ANTIBODIES | n/a |
| GFS:P03021 | retinitis pigmentosa GTPase regulator interacting protein 1; Protien | Protien | n/a |
