Gene: VPS13D

Alternate names for this Gene: SCAR4

Gene Summary: This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of 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 to date. These two represent the major variants of this gene and encode distinct isoforms.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22-p36.21

Description of this Gene: vacuolar protein sorting 13 homolog D

Type of Gene: protein-coding

rs148728975 in VPS13D gene and Asthma PMID 24406073 2014 Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.

rs1383958401 in VPS13D gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 PMID 29518281 2018 Recessive mutations in VPS13D cause childhood onset movement disorders.

PMID 29604224 2018 Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

rs6685273 in VPS13D gene and Soluble Interleukin 6 Receptor Measurement PMID 25896417 2015 VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.