Golgin subfamily A member 2

4REY280199412ENSG00000167110ENSMUSG00000002546Q08379Q921M4NM_004486NM_001366244NM_001366246NM_001362698NP_004477NP_001353173NP_001353175NP_001349627Golgin subfamily A member 2, also known as 130 kDa cis-Golgi matrix protein 1 (GM130) is a protein that in humans is encoded by the GOLGA2 gene.

[5] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs).

This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport.

Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined.

[7] A patient with a neuromuscular disorder has been identified that is homozygous for a deletion mutation in this gene, and morpholino knockdown in zebrafish has shown similar phenotypes.