RHO
LOCUS ID6010
GENE_SYMBOLRHO
GENE NAMEreti-specific pigment protein rhodopsin
SYNONYMNSACT, alpha-1-antichymotrypsin, AACT
CHROMOSOME3
HOMOLOGENE ID68068
microRNAsNANA
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 cascade. Defects in this gene are also one of the causes of congenital statiory night blindness. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. The results suggest that there is an increase in circulatory RHO mRNA with the severity of diabetic retinopathy.15251955