GGA1

Chr 22

golgi associated, gamma adaptin ear containing, ARF binding protein 1

NCBI Gene: 26088 ENSG00000100083 UniProt: Q9UJY5 OMIM: 606004

The protein regulates trafficking of proteins between the trans-Golgi network and lysosomes, including targeting of membrane receptors and regulation of retrograde transport pathways. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, with some patients showing additional features like microcephaly or movement disorders. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.15

Clinical Summary— GGA1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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