Target intelligence / Profile preview

Golgin subfamily A member 2 (GM130)

Target
GM130
Molecular classification
Golgi matrix protein, Peripheral membrane protein, Other (membrane skeleton protein)
01

Overview

GM130 (Golgin subfamily A member 2) is a peripheral membrane protein localized to the cis-Golgi stack. It functions as a membrane skeleton component that maintains Golgi apparatus structure, facilitates vesicular trafficking, and links the Golgi organelle to the microtubule cytoskeleton, contributing to cell polarity and division. GM130 is ubiquitously expressed and essential for normal protein glycosylation and sorting. Mutations in the encoding gene, GOLGA2, can result in severe neuromuscular disorders including developmental delay, progressive microcephaly, congenital muscular dystrophy, and abnormal glycosylation[6][1][3][2]. There are no approved drugs or therapies directly targeting GM130, and its deficiency is associated with incompatible cellular phenotypes.

Other names
Golgin subfamily A member 2GM130GOLGA2Golgi matrix protein 130
02

Biological functions

Maintenance of Golgi apparatus structure (Golgi stack skeleton)Microtubule cytoskeleton organizationPositive regulation of protein glycosylationVesicular traffickingCellular polarityCell division
03

Disease associations

Neuromuscular disorders (including congenital muscular dystrophy and microcephaly)Congenital disorders of glycosylationOther (disruption linked to developmental delay, seizures, and possibly muscle/brain dysfunction)

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