TRAPPC10

Chr 21AR

trafficking protein particle complex subunit 10

Also known as: EHOC-1, EHOC1, GT334, NEDMISS, TMEM1, TRS130, TRS30

NCBI Gene: 7109 ENSG00000160218 UniProt: P48553 OMIM: 602103

The encoded transmembrane protein is a specific subunit of the TRAPP II complex that functions as a membrane tether in vesicular transport from the endoplasmic reticulum through the Golgi apparatus. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, short stature, and speech delay. This gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.204), indicating that functional copies are essential for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly, short stature, and speech delayMIM #620027

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted