Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the GUCY2F
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
The protein encoded by this gene is a guanylyl cyclase found predominantly in
photoreceptors in the
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
. The encoded protein is thought to be involved in resynthesis of
cGMP after light activation of the visual
signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein.
Clinical significance
Defects in this gene may be a cause of X-linked
retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...
.
References
Further reading
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EC 4.6.1
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