3jwr
From Proteopedia
Contents |
Crystal structure of chimeric PDE5/PDE6 catalytic domain complexed with 3-isobutyl-1-methylxanthine (IBMX) and PDE6 gamma-subunit inhibitory peptide 70-87.
Template:ABSTRACT PUBMED 19798052
Disease
[CNRG_HUMAN] Defects in PDE6G are the cause of retinitis pigmentosa type 57 (RP57) [MIM:613582]. RP57 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.[1]
Function
[PDE5A_HUMAN] Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP. [CNRG_HUMAN] Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
About this Structure
3jwr is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Barren B, Gakhar L, Muradov H, Boyd KK, Ramaswamy S, Artemyev NO. Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit. EMBO J. 2009 Nov 18;28(22):3613-22. Epub 2009 Oct 1. PMID:19798052 doi:10.1038/emboj.2009.284
- ↑ Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub, 2010 Jul 22. PMID:20655036 doi:10.1016/j.ajhg.2010.06.016
