TRAPPC8

Chr 18

trafficking protein particle complex subunit 8

Also known as: GSG1, HsT2706, KIAA1012, TRS85

NCBI Gene: 22878 ENSG00000153339 UniProt: Q9Y2L5

The TRAPPC8 protein functions in endoplasmic reticulum to Golgi trafficking, maintains the ATG9 cycling pool required for autophagy initiation, and is involved in collagen secretion. Mutations cause autosomal recessive intellectual developmental disorder with seizures and spasticity, typically presenting in infancy with developmental delays, epilepsy, and progressive spasticity. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Involved in Golgi organization and collagen biosynthetic process. Part of TRAPP complex. [provided by Alliance of Genome Resources, Jul 2025]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)