Symbol: Name: ID: |
RHO rhodopsin GFS:15 |
Gene name: | RHO |
Chromosome: | 3q21-q24 |
Previous Symbols: | RP4 |
Previous Names: | retinitis pigmentosa 4, autosomal dominant |
Aliases: | OPN2 |
Name Aliases: | opsin 2, rod pigment |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:97914 | Rat Genome Database ID: | RGD:3573 |
HGNC ID: | HGNC:10012 | RefSeq IDs: | NM_000539 |
Entrez Gene ID: | 6010 | Ensembl Gene ID: | ENSG00000163914 |
VEGA IDs: | UniProt ID: | P08100 | |
UCSC ID: | uc003emt.2 | OMIM ID: | 180380 |
Pubmed: | PMID2016091 | ||
CCDS IDs: | CCDSCCDS3063.1 |
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. 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.
Products for RHO gene
Catalog | Product Name | Application | Company |
GFS:E00015 | rhodopsin; ELISA kit | ELISA | n/a |
GFS:A00015 | rhodopsin; Anti | ANTIBODIES | n/a |
GFS:P00015 | rhodopsin; Protien | Protien | n/a |