RRH Gene - Retinal Pigment Epithelium-Derived Rhodopsin Homolog
Complete guide to the RRH gene, including genomic information, expression, mutations, and related diseases.
Gene Information Card
| Symbol | RRH |
|---|---|
| Full Name | retinal pigment epithelium-derived rhodopsin homolog |
| Gene Type | gene with protein product |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 10692 ncbi.nlm.nih.gov/gene/10692 |
| Ensembl ID | ENSG00000180245 |
| UniProt ID | O14718 |
| OMIM ID | 605224 |
| HGNC ID | HGNC:10450 |
| Aliases | peropsin |
Description
The RRH gene encodes a protein known as peropsin, a member of the rhodopsin family of G protein-coupled receptors. It is expressed in the retinal pigment epithelium (RPE) and is thought to play a role in the visual cycle, possibly acting as a photopigment that detects light and regulates the availability of all-trans retinol for the regeneration of visual pigments. The protein is a seven-transmembrane domain receptor that may be involved in light-dependent signaling within the RPE.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Potential involvement in retinal degeneration; mutations may disrupt RPE function and visual cycle. | Limited evidence; some studies suggest association but no definitive causal variants identified. |
| Age-related macular degeneration (AMD) | Altered RRH expression or function may contribute to RPE dysfunction and AMD pathology. | Expression studies show RRH in RPE; functional studies are ongoing. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | Not available | High expression in retinal pigment epithelium |
| Retinal Pigment Epithelium | Not available | Primary site of expression |
| Brain | Not available | Low expression |
| Testis | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | Not available | Retinal pigment epithelial cell line; expresses RRH |
| HeLa | Not available | No significant expression |
| HEK293 | Not available | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Unknown | Potential effect on protein function; not well characterized |
| c.456C>T (p.Ser152Leu) | Missense | Unknown | May affect stability or ligand binding |
| c.789G>A (p.Val263Ile) | Missense | Unknown | Likely benign; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been reported for RRH.
Gain of Function (GOF)
No gain-of-function mutations have been described.
Dominant Negative (DN)
No dominant-negative effects have been observed.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • photoreceptor activity |
| • signal transducer activity | • integral component of membrane |
| • plasma membrane | • response to light stimulus |
Pathways
• Visual phototransduction
• G alpha (s) signalling events
• Retinoid metabolism and transport
Protein Summary
Peropsin (RRH) is a 337-amino acid protein with seven transmembrane domains, characteristic of G protein-coupled receptors. It shares sequence similarity with rhodopsin and other opsins. Peropsin is localized to the microvilli of the retinal pigment epithelium, where it may act as a photoisomerase or a light sensor that regulates the visual cycle. It binds all-trans retinal and may catalyze its isomerization to 11-cis retinal, contributing to the regeneration of visual pigments. The protein is also expressed in other tissues, but its function there is less understood.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRH Knockout HEK293 Cell Line | EDJ-KQ7133 | Human | 10692 | Details Get a Quote |
| RRH Knockout HCT 116 Cell Line | EDJ-KQ32019 | Human | 10692 | Details Get a Quote |
| RRH Knockout HeLa Cell Line | EDJ-KQ55464 | Human | 10692 | Details Get a Quote |
| RRH Knockout A-549 Cell Line | EDJ-KQ63949 | Human | 10692 | Details Get a Quote |
