VPS13A, Official Symbol VPS13Aprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Aprovided by HGNC Primary source HGNC:HGNC:1908 See related Ensembl:ENSG00000197969 MIM:605978; AllianceGenome:HGNC:1908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHAC; BLTP5A; CHOREIN Summary The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.5), skin (RPKM 6.4) and 25 other tissues See more Orthologs mouse all