VPS13D
Description
The VPS13D (vacuolar protein sorting 13 homolog D) is a protein-coding gene located on chromosome 1.
The VPS13D gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, these proteins are involved in transporting membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described. These two represent the major variants of this gene and encode distinct isoforms.
VPS13D is also known as BLTP5D, SCA24, SCAR4, SCASI.
Associated Diseases
- Spinocerebellar ataxia, autosomal recessive 4
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
