Phosphodiesterase 6B, cGMP-Specific, Rod, Beta

Alternative Names

  • PDE6B

Associated Diseases

Retinitis Pigmentosa 40
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OMIM Number

180072

NCBI Gene ID

5158

Uniprot ID

P35913

Length

83,568 bases

No. of Exons

28

No. of isoforms

3

Protein Name

Rod cGMP-Specific 3',5'-Cyclic Phosphodiesterase Subunit Beta

Molecular Mass

98336 Da

Amino Acid Count

854

Genomic Location

chr4:587,324-670,891

Gene Map Locus
4p16.3

Description

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000283.3:c.992+1G>ASaudi Arabiachr4:654889PathogenicRetinitis Pigmentosa 40NG_009839.1:g.34316G>A; NM_000283.3:c.992+1G>A898144119
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