InterPro domain: IPR044760

General Information

  • Identifier IPR044760
  • Description Trafficking protein particle complex subunit 2-like
  • Number of genes 127
  • Gene duplication stats Loading...
  • Associated GO terms GO:0006888  

Abstract

The function of TRAPPC2L (trafficking protein particle complex subunit 2-like) is not known, but evidence suggests that it is part of the TRAPP II complex required for distinct tethering events at Golgi membranes, playing a role in vesicular transport from endoplasmic reticulum to Golgi [ 1 ]. Mutations in the TRAPPC2L gene cause an autosomal recessive disease characterised by encephalopathy with episodic rhabdomyolysis [ 2 ].


1. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic 10, 724-36
2. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet 55, 753-764

Species distribution

Gene table

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