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]
Function:
This protein participates in processes of transmission and amplification of the visual signal.
Subcellular Location:
Cell membrane.
DISEASE:
Defects in PDE6A are the cause of retinitis pigmentosa type 43 (RP43) [MIM:613810]. RP43 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Similarity:
Belongs to the cyclic nucleotide phosphodiesterase family.
Contains 2 GAF domains.
SWISS:
P16499
Gene ID:
5145
Database links:
Entrez Gene: 281973 Cow
Entrez Gene: 5145 Human
Entrez Gene: 225600 Mouse
Omim: 36071 Human
SwissProt: P11541 Cow
SwissProt: Q28263 Dog
SwissProt: P16499 Human
SwissProt: P27664 Mouse
Unigene: 4147 Cow
Unigene: 151710 Human
Unigene: 567314 Human
Unigene: 1370 Mouse
Unigene: 391106 Mouse
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