PDE6A

From Wikipedia, the free encyclopedia

Phosphodiesterase 6A, cGMP-specific, rod, alpha

Identifiers

PDE6A; CGPR-A; PDEA

External IDs

Gene ontology
Molecular Function:	• hydrolase activity • 3',5'-cyclic-GMP phosphodiesterase activity
Cellular Component:	• membrane
Biological Process:	• signal transduction • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000440 (mRNA)
NP_000431 (protein)

XM_001005843 (mRNA)
XP_001005843 (protein)

Location

Chr 5: 149.22 - 149.3 Mb

n/a

Pubmed search

[1]

[2]

Phosphodiesterase 6A, cGMP-specific, rod, alpha, also known as PDE6A, is a human gene.^[1]

PDE6A encodes the cyclic-GMP (cGMP) specific phosphodiesterase 6A alphha 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 gunylate cyclase cGMP synthesis. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.^[1]

[edit] References

^ ^a ^b Entrez Gene: PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha.

[edit] Further reading

Pittler SJ, Baehr W (1991). "The molecular genetics of retinal photoreceptor proteins involved in cGMP metabolism.". Prog. Clin. Biol. Res. 362: 33–66. PMID 1672236.
Takemoto DJ, Cunnick JM (1990). "Visual transduction in rod outer segments.". Cell. Signal. 2 (2): 99–104. PMID 2169289.
Catty P, Pfister C, Bruckert F, Deterre P (1992). "The cGMP phosphodiesterase-transducin complex of retinal rods. Membrane binding and subunits interactions.". J. Biol. Chem. 267 (27): 19489–93. PMID 1326553.
Pittler SJ, Baehr W, Wasmuth JJ, et al. (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. PMID 2155175.
Huang SH, Pittler SJ, Huang X, et al. (1996). "Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.". Nat. Genet. 11 (4): 468–71. doi:10.1038/ng1295-468. PMID 7493036.
Warrington JA, Bengtsson U (1995). "High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis.". Genomics 24 (2): 395–8. doi:10.1006/geno.1994.1636. PMID 7698768.
Mohamed MK, Taylor RE, Feinstein DS, et al. (1998). "Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase alpha-subunit.". J. Mol. Neurosci. 10 (3): 235–50. PMID 9770645.
Mou H, Grazio HJ, Cook TA, et al. (1999). "cGMP binding to noncatalytic sites on mammalian rod photoreceptor phosphodiesterase is regulated by binding of its gamma and delta subunits.". J. Biol. Chem. 274 (26): 18813–20. PMID 10373499.
Dryja TP, Rucinski DE, Chen SH, Berson EL (1999). "Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.". Invest. Ophthalmol. Vis. Sci. 40 (8): 1859–65. PMID 10393062.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Pittler SJ, Zhang Y, Chen S, et al. (2004). "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.". J. Biol. Chem. 279 (19): 19800–7. doi:10.1074/jbc.M401864200. PMID 15001570.
Riazuddin SA, Zulfiqar F, Zhang Q, et al. (2006). "Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.". Mol. Vis. 12: 1283–91. PMID 17110911.