GNAT2
   HOME

TheInfoList



OR:

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''GNAT2''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Function

Transducin is a 3-subunit guanine nucleotide-binding protein (
G protein G proteins, also known as guanine nucleotide-binding proteins, are a Protein family, family of proteins that act as molecular switches inside cells, and are involved in transmitting signals from a variety of stimuli outside a cell (biology), ...
) which stimulates the coupling of
rhodopsin Rhodopsin, also known as visual purple, is a protein encoded by the ''RHO'' gene and a G-protein-coupled receptor (GPCR). It is a light-sensitive receptor protein that triggers visual phototransduction in rod cells. Rhodopsin mediates dim ...
and cGMP-
phosphodiesterase A phosphodiesterase (PDE) is an enzyme that breaks a phosphodiester bond. Usually, ''phosphodiesterase'' refers to cyclic nucleotide phosphodiesterases, which have great clinical significance and are described below. However, there are many oth ...
during visual impulses. The transducin alpha subunits in rods and
cones In geometry, a cone is a three-dimensional figure that tapers smoothly from a flat base (typically a circle) to a point not contained in the base, called the ''apex'' or '' vertex''. A cone is formed by a set of line segments, half-lines, ...
are encoded by separate genes. This gene encodes the alpha subunit in cones.


References


Further reading

* * * * * * * * * * * * * * * *


External links


GeneReviews/NIH/NCBI/UW entry on Achromatopsia

OMIM entries on Achromatopsia
{{gene-1-stub