phosphodiesterase 6B
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A PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found in specialized light receptor cells called rods. As part of the light-sensitive tissue at the back of the eye (the retina), rods transmit visual signals from the eye to the brain specifically in low-light conditions.
Normal function
A PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found in specialized light receptor cells called rods. As part of the light-sensitive tissue at the back of the eye (the retina), rods transmit visual signals from the eye to the brain specifically in low-light conditions.
When light enters the eye, a series of rod cell proteins are turned on (activated), including cGMP-PDE. When cGMP-PDE is active, molecules called GMP within the rod cell are broken down, which triggers channels on the cell membrane to close. The closing of these channels results in the transmission of signals to the brain, which are interpreted as vision.
Conditions referring to this gene or chromosome
Other names
GMP-PDE beta
PDE6B_HUMAN
PDEB
phosphodiesterase 6B, cGMP-specific, rod, beta
rod cGMP-phosphodiesterase beta-subunit
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
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Leitura adicional e referências
- phosphodiesterase 6B; MedlinePlus, National Library of Medicine.
- Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.
- Muradov KG, Granovsky AE, Artemyev NO. Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. Biochemistry. 2003 Mar 25;42(11):3305-10. doi: 10.1021/bi027095x.
- Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat. 2007 Mar;28(3):243-54. doi: 10.1002/humu.20425.
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