Golgi SNAP receptor complex member 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 ''GOSR2''
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
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene.
Mutations
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosi ...
in the ''GOSR2'' gene are linked with
North Sea progressive myoclonus epilepsy (NS-PME), a rare subtype of
progressive myoclonus epilepsy that is prevalent in northern Europe.
Interactions
GOSR2 has been shown to
interact with
USO1
General vesicular transport factor p115 is a protein that in humans is encoded by the ''USO1'' gene.
Function
The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during i ...
and
STX5
Syntaxin-5 is a protein that in humans is encoded by the ''STX5'' 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 ...
.
References
Further reading
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