PDE6A
Identifiers
AliasesPDE6A, CGPR-A, PDEA, RP43, phosphodiesterase 6A
External IDsOMIM: 180071 MGI: 97524 HomoloGene: 380 GeneCards: PDE6A
EC number3.1.4.35
Orthologs
SpeciesHumanMouse
Entrez

5145

225600

Ensembl

ENSG00000132915

ENSMUSG00000024575

UniProt

P16499

P27664

RefSeq (mRNA)

NM_000440

NM_146086

RefSeq (protein)

NP_000431

n/a

Location (UCSC)Chr 5: 149.86 – 149.94 MbChr 18: 61.35 – 61.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.[5][6][7]

PDE6A 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. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000132915 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024575 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL (Apr 1990). "Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene". Genomics. 6 (2): 272–83. doi:10.1016/0888-7543(90)90567-E. PMID 2155175.
  6. 1 2 "Entrez Gene: PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha".
  7. Gulati S, Palczewski K, Engel A, Stahlberg H, Kovacik L (Feb 2019). "Cryo-EM structure of phosphodiesterase 6 reveals insights into the allosteric regulation of type I phosphodiesterases". Science Advances. 27 (5): eaav4322. Bibcode:2019SciA....5.4322G. doi:10.1126/sciadv.aav4322. PMC 6392808. PMID 30820458.

Further reading


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