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VPS13A


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Gene DB Home
Symbol:VPS13A
Name(s):vacuolar protein sorting 13 homolog A (S. cerevisiae)
Type:protein-coding
Organism:Homo sapiens
Synonyms:CHAC, CHOREIN, FLJ42030, KIAA0986
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
17673232 The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.
17998451 A Mexican family, two sister, after mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33.
15918062 Founder mutation and single-nucleotid epolymorphisms in chorea-acanthocytosis in French-Canadians.

Recent Publications on VPS13A:

Pubmed Logo
Re: Chorea-acanthocytosis: report of two Brazilian cases.
INTRODUCTION: Chorea-acanthocytosis (ChAc) is one of the...
18th September, 2009
Mov Disord. 2009 Jun 15;24(8):1253-4; author reply 1254.
DOI Direct Link
[Chorea-acanthocytosis without acanthocytes.]
INTRODUCTION: Chorea-acanthocytosis (ChAc) is one of the...
6th June, 2009
Service de neurologie, hopital Pasteur, CHU de Nice, 30, voie Romaine, Rev Neurol (Paris). 2009 Jun 2.
DOI Direct Link
Chorea-acanthocytosis: report of two Brazilian cases.
Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized...
9th April, 2009
Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Mov Disord. 2008 Oct 30;23(14):2090-3.
DOI Direct Link
CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade.
To understand pathways mediating the inflammatory responses of human...
14th February, 2009
Department of Medicine, University of California at Los Angeles, CA 90095, J Immunol. 2009 Jan 1;182(1):466-76.
Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.
Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized...
4th February, 2009
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universitat Acta Neuropathol. 2009 Jan;117(1):95-6; author reply 97-8. Epub 2008 Jul
DOI Direct Link

View more research publications.

VPS13A results (if any) from reagent suppliers

Google CSE Logo
VPS Antibody / VPS Antibodies
VPS13A (C-13) Antibody, sc-109138, goat IgG, C-terminal (h), WB, IF, ELISA, m, r , h .... VPS13A shRNA (m) Lentiviral Particles: sc-155217-V ...
http://www.scbt.com/table-vps.html...

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VPS13A (C-13) Antibody sc-109138
VPS13A shRNA (h) Lentiviral Particles, sc-92870-V, 200 µl, $595. VPS13A shRNA (m ) Lentiviral Particles, sc-155217-V, 200 µl ...
http://www.scbt.com/ko/datasheet-109138-vps13a-c-13-antibody...

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VPS13A siRNA (h) sc-92870
Click here for details. suitable control antibody: contact Technical Service for availability of control antibody; sqRT-PCR Primer also available: VPS13A ...
http://www.scbt.com/pt/datasheet-92870-vps13a-sirna-h.html...

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