Retinal guanylyl cyclase 1 also known as guanylate cyclase 2D, retinal is an

enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...

that in humans is encoded by the GUCY2D (guanylate cyclase 2D)

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

This gene encodes a retina-specific

guanylate cyclase Guanylate cyclase (EC 4.6.1.2, also known as guanyl cyclase, guanylyl cyclase, or GC; systematic name GTP diphosphate-lyase (cyclizing; 3′,5′-cyclic-GMP-forming)) is a lyase enzyme that converts guanosine triphosphate (GTP) to cyclic guanos ...

, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic

amino-terminal The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the ami ...

signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by

natriuretic peptide A natriuretic peptide is a peptide that induces natriuresis, which is the excretion of sodium by the kidneys. Known natriuretic peptides include the following: * atrial natriuretic peptide, also known as ANP * brain natriuretic peptide, also known ...

s. The nomenclature for members of the Gucy2 gene family is not consistent across species. In many mammals, including mice and rats, the Gucy2d gene encodes a related protein – GC-D – that is specifically expressed in a subpopulation of olfactory sensory neurons. This gene is a pseudogene in humans and most other primates. In rodents, the corresponding (orthologous) gene to human GUCY2D is Gucy2e.

Clinical significance

Mutations in this gene result in

Leber's congenital amaurosis Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be co ...

and cone-rod dystrophy-6 diseases.

References

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