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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