TRAPPC10

Description

The TRAPPC10 (trafficking protein particle complex subunit 10) is a protein-coding gene located on chromosome 21.

TRAPPC10 is a transmembrane protein located in the cis-Golgi complex. It is part of the multisubunit transport protein particle (TRAPP) complex and plays a role in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene have been linked to Unverricht-Lundborg type progressive myoclonus epilepsy and autoimmune polyglandular disease type 1. Two transcript variants encoding different isoforms have been identified for this gene.

TRAPPC10 is a specific subunit of the TRAPP II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. This role has been supported by multiple studies (PubMed:11805826, PubMed:31467083, PubMed:35298461).

TRAPPC10 is also known as EHOC-1, EHOC1, GT334, NEDMISS, TMEM1, TRS130, TRS30.

Associated Diseases

• Neurodevelopmental disorder with microcephaly, short stature, and speech delay
• Autosomal recessive primary microcephaly