SYNRG

Chr 17

synergin gamma

Also known as: AP1GBP1, SYNG

NCBI Gene: 11276 ENSG00000275066 UniProt: Q9UMZ2

The protein functions in intracellular membrane trafficking at the trans-Golgi network by linking the AP-1 clathrin-adaptor complex to other proteins and is a component of clathrin-coated vesicles involved in protein transport between cellular compartments. Mutations cause autosomal recessive pontocerebellar hypoplasia type 14, a severe neurodevelopmental disorder with onset in infancy characterized by underdevelopment of the brainstem and cerebellum. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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