GGA2

Chr 16

golgi associated, gamma adaptin ear containing, ARF binding protein 2

Also known as: VEAR

NCBI Gene: 23062 ENSG00000103365 UniProt: Q9UJY4

This gene encodes a coat protein that regulates trafficking of proteins between the trans-Golgi network and lysosomes by mediating clathrin recruitment and binding ubiquitinated cargo molecules. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.749), suggesting some tolerance to haploinsufficiency.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.75

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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