RHO

GENE INFORMATION

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Gene name

RHO (HGNC Symbol)

Synonyms

OPN2, RP4

Description

rhodopsin (HGNC Symbol)

Entrez 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 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, Jul 2008]

Chromosome

3 (Chromosome progress)

Cytoband

q22.1

Chromosome location (bp)

129247483 - 129254012

Ensembl

ENSG00000163914 (version 73.37)

Entrez gene

6010

UniProt

P08100 (UniProt - Evidence at protein level)

neXtProt

NX_P08100

Antibodypedia

RHO antibodies
 

PROTEIN VIEW

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RHO-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RHO-001 ENSP00000296271
ENST00000296271
P08100
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