Golgi SNAP receptor complex member 2 is a protein that in humans is encoded by the GOSR2 gene. [5] [6] [7]
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. [7]
Mutations in the GOSR2 gene are linked with North Sea progressive myoclonus epilepsy (NS-PME), [8] a rare subtype of progressive myoclonus epilepsy that is prevalent in northern Europe. [9]
GOSR2 has been shown to interact with USO1 [10] [11] and STX5. [10] [12] [13]
N-ethylmaleimide-sensitive factor, also known as NSF or N-ethylmaleimide sensitive fusion proteins, is an enzyme which in humans is encoded by the NSF gene.
Golgin subfamily A member 2 is a protein that in humans is encoded by the GOLGA2 gene.
Syntaxin-binding protein 1 is a protein that in humans is encoded by the STXBP1 gene. This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4.
General vesicular transport factor p115 is a protein that in humans is encoded by the USO1 gene.
Ras-related protein Rab-1A is a protein that in humans is encoded by the RAB1A gene.
Syntaxin-6 is a protein that in humans is encoded by the STX6 gene.
Golgi reassembly-stacking protein of 65 kDa (GRASP65) also known as Golgi reassembly-stacking protein 1 (GORASP1) is a protein that in humans is encoded by the GORASP1 gene.
Vesicle-associated membrane protein 3 is a protein that in humans is encoded by the VAMP3 gene.
Syntaxin-5 is a protein that in humans is encoded by the STX5 gene.
Synaptobrevin homolog YKT6 is a protein that in humans is encoded by the YKT6 gene.
Syntaxin-12 is a protein that in humans is encoded by the STX12 gene.
Golgi SNAP receptor complex member 1 is a protein that in humans is encoded by the GOSR1 gene.
BET1-like protein is a protein that in humans is encoded by the BET1L gene.
Vesicle-associated membrane protein 4 is a protein that in humans is encoded by the VAMP4 gene.
Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.
Vesicle-trafficking protein SEC22b is a protein that in humans is encoded by the SEC22B gene.
BET1 homolog is a protein that in humans is encoded by the BET1 gene.
Sec1 family domain-containing protein 1 is a protein that in humans is encoded by the SCFD1 gene.
Vesicle-trafficking protein SEC22a is a protein that in humans is encoded by the SEC22A gene.
Syntaxin 17 is a protein that in humans is encoded by the STX17 gene. In horses a duplication in intron 6 causes progressive graying.