| RHO |
| LOCUS ID | 6010 | ||||||||||
| GENE_SYMBOL | RHO | ||||||||||
| GENE NAME | reti-specific pigmen | ||||||||||
| SYNONYMNS | ACT, alpha-1-antichymotrypsin, AACT | ||||||||||
| CHROMOSOME | 3 | ||||||||||
| HOMOLOGENE ID | 68068 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal domint, autosomal recessive, or X-linked recessive disorder. In the autosomal domint 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 casca |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Retinopathy | 1. The results suggest that there is an increase in circulatory RHO mRNA with the severity of diabetic retinopathy. | 15251955 |