PDE6A gene

phosphodiesterase 6A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

This protein participates in processes of transmission and amplification of the visual signal.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 43

From UniProt:

Retinitis pigmentosa 43 (RP43): 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. [MIM:613810]

Cytogenetic Location: 5q32, which is the long (q) arm of chromosome 5 at position 32

Molecular Location: base pairs 149,857,956 to 149,944,793 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q32, which is the long (q) arm of chromosome 5 at position 32
  • CGPR-A
  • PDEA
  • RP43