PDE6A Chromosome 5
Phosphodiesterase 6A
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What This Gene Does
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000132915
Associated Conditions (16)
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 43
PDE6A-related disorder
Inborn genetic diseases
Usher syndrome
PDE6A-related retinopathy
Malignant tumor of esophagus
Ovarian cancer
Cervical cancer
Uterine corpus endometrial carcinoma
Sarcoma
Lymphoma
Melanoma
Autosomal recessive retinitis pigmentosa
Leber congenital amaurosis
Key Variants
RS112926956
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS114973968
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS12109444
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS121918577
Conflicting classifications of pathogenicity
Retinitis pigmentosa 43, Retinal dystrophy, PDE6A-related disorder
Health Risk
RS137853899
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1382186195
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 43, Retinal dystrophy
Health Risk
RS138274547
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 43, Retinal dystrophy
Health Risk
RS138315990
Conflicting classifications of pathogenicity
Retinitis pigmentosa, PDE6A-related disorder, Retinal dystrophy
Health Risk
RS1386927449
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS139444207
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 43, PDE6A-related disorder
Health Risk
RS139553131
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS139697733
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (168)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS979416907 | Health Risk | Pathogenic | — |
| RS1161389116 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1366137772 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 43, Retinitis pigmentosa 43 |
| RS1383907349 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 43, Retinal dystrophy |
| RS141252097 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Autosomal recessive retinitis pigmentosa |
| RS1428612396 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 43, Retinitis pigmentosa 43 |
| RS144484128 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 43 |
| RS146591309 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 43 |
| RS1554090012 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1754021035 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS561600163 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 43, Retinitis pigmentosa 43 |
| RS750539462 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 43, Retinal dystrophy, Retinitis pigmentosa 43 |
| RS754012367 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 43, Retinal dystrophy |
| RS759537984 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 43, Retinitis pigmentosa 43 |
| RS759589388 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 43, Retinal dystrophy |
| RS773065850 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 43, Retinal dystrophy |
| RS781377291 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS781616522 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 43 |