- VPS13A
Vacuolar protein sorting 13 homolog A (S. cerevisiae), also known as VPS13A, is a human
gene .cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23230| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Rubio JP, Danek A, Stone C, "et al." |title=Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 899–908 |year= 1997 |pmid= 9382101 |doi=
*cite journal | author=Nagase T, Ishikawa K, Suyama M, "et al." |title=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. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63–70 |year= 1999 |pmid= 10231032 |doi=
*cite journal | author=Dias Neto E, Correa RG, Verjovski-Almeida S, "et al." |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=
*cite journal | author=Rampoldi L, Dobson-Stone C, Rubio JP, "et al." |title=A conserved sorting-associated protein is mutant in chorea-acanthocytosis. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 119–20 |year= 2001 |pmid= 11381253 |doi= 10.1038/88821
*cite journal | author=Ueno S, Maruki Y, Nakamura M, "et al." |title=The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 121–2 |year= 2001 |pmid= 11381254 |doi= 10.1038/88825
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bohlega S, Al-Jishi A, Dobson-Stone C, "et al." |title=Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. |journal=Mov. Disord. |volume=18 |issue= 4 |pages= 403–7 |year= 2003 |pmid= 12671946 |doi= 10.1002/mds.10361
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Brandenberger R, Wei H, Zhang S, "et al." |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971
*cite journal | author=Humphray SJ, Oliver K, Hunt AR, "et al." |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Velayos-Baeza A, Vettori A, Copley RR, "et al." |title=Analysis of the human VPS13 gene family. |journal=Genomics |volume=84 |issue= 3 |pages= 536–49 |year= 2005 |pmid= 15498460 |doi= 10.1016/j.ygeno.2004.04.012
*cite journal | author=Dobson-Stone C, Velayos-Baeza A, Jansen A, "et al." |title=Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. |journal=Neurogenetics |volume=6 |issue= 3 |pages= 151–8 |year= 2006 |pmid= 15918062 |doi= 10.1007/s10048-005-0220-9PBB_Controls
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