VPS13A

Vacuolar protein sorting 13 homolog A (S. cerevisiae)
Identifiers
Symbols	VPS13A ; CHAC; FLJ42030; KIAA0986
External IDs	Template:OMIM5 Template:MGI HomoloGene: 22068
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE VPS13A 214785 at tn.png
File:PBB GE VPS13A 213686 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Vacuolar protein sorting 13 homolog A (S. cerevisiae), also known as VPS13A, is a human gene.

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.

Further reading

• Rubio JP, Danek A, Stone C; et al. (1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". Am. J. Hum. Genet. 61 (4): 899–908. PMID 9382101.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagase T, Ishikawa K, Suyama M; et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (1): 63–70. PMID 10231032.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rampoldi L, Dobson-Stone C, Rubio JP; et al. (2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nat. Genet. 28 (2): 119–20. doi:10.1038/88821. PMID 11381253.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ueno S, Maruki Y, Nakamura M; et al. (2001). "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis". Nat. Genet. 28 (2): 121–2. doi:10.1038/88825. PMID 11381254.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bohlega S, Al-Jishi A, Dobson-Stone C; et al. (2003). "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula". Mov. Disord. 18 (4): 403–7. doi:10.1002/mds.10361. PMID 12671946.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brandenberger R, Wei H, Zhang S; et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Velayos-Baeza A, Vettori A, Copley RR; et al. (2005). "Analysis of the human VPS13 gene family". Genomics. 84 (3): 536–49. doi:10.1016/j.ygeno.2004.04.012. PMID 15498460.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dobson-Stone C, Velayos-Baeza A, Jansen A; et al. (2006). "Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis". Neurogenetics. 6 (3): 151–8. doi:10.1007/s10048-005-0220-9. PMID 15918062.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)