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Article

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Human genetics - 1 Feb 2016

Shamseldin Hanan E, Bennett Alexis H, Alfadhel Majid, Gupta Vandana, Alkuraya Fowzan S

Abstract excerpt

Golgi apparatus (GA) is a membrane-bound organelle that serves a multitude of critical cellular functions including protein secretion and sorting, and cellular polarity. Many Mendelian diseases are caused by mutations in genes encoding various components of GA. GOLGA2 encodes GM130, a necessary component for the assembly of GA as a single complex, and its deficiency has been found to result in severe cellular...

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Identifiers

PMID: 26742501
DOI: 10.1007/s00439-015-1632-8
PMCID: PMC4975006

Genes

GOLGA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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