InterPro domain: IPR026854
General Information
- Identifier IPR026854
- Description Vacuolar protein sorting-associated protein 13-like, N-terminal domain
- Number of genes 559
- Gene duplication stats Loading...
Abstract
Although mutations in the full-length vacuolar protein sorting 13A (VPS13A) protein in vertebrates lead to the disease of chorea-acanthocytosis, the exact function of any of the regions within the protein is not yet known. This domain is the proposed leucine zipper at the N terminus of VPS13A and related proteins. The full-length protein is a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport [ 1 ].
1. Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C. Biochem. Biophys. Res. Commun. 353, 902-7
Species distribution
Gene table
Loading...