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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''GOSR2''
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 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.
in the ''GOSR2'' gene are linked with
North Sea progressive myoclonus epilepsy (NS-PME), a rare subtype of
progressive myoclonus epilepsy
Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are ...
that is prevalent in northern Europe.
Interactions
GOSR2 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
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.
Interactions
STX5 has been shown to interact with:
* BET1L,
* GOSR1,
* GOSR2,
* NAPA, and
* USO1
General vesicular transport factor p115 is a protein that in hu ...
.
References
Further reading
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