Cell Biology Antibodies 7

Anti-VPS13A Antibody (CAB17419)

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SKU:
CAB17419
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-VPS13A Antibody
Antibody SKU:CAB17419
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant protein of human VPS13A.
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:U-87MG
Immunogen:Recombinant protein of human VPS13A.
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:23230
Uniprot:Q96RL7
Cellular Location:
Calculated MW:
Observed MW:360kDa
Synonyms:CHAC, CHOREIN, VPS13A
Background:
UniProt Protein Function:VPS13A: May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC); also known as Levine-Critchley syndrome. CHAC is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Belongs to the VPS13 family. 4 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 9q21

Cellular Component: extrinsic to membrane; intracellular

Molecular Function:protein binding

Biological Process: Golgi to endosome transport; locomotory behavior; nervous system development; protein localization; protein transport; social behavior

Disease: Choreoacanthocytosis

NCBI 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]
UniProt Code:Q96RL7
NCBI GenInfo Identifier:66346672
NCBI Gene ID:23230
NCBI Accession:NP_001018047.1
UniProt Secondary Accession:Q96RL7,Q5JSX9, Q5JSY0, Q5VYR5, Q702P4, Q709D0, Q86YF8 Q96S61, Q9H995, Q9Y2J1,
UniProt Related Accession:Q96RL7
Molecular Weight:28.5 kDa
NCBI Full Name:vacuolar protein sorting-associated protein 13A isoform C
NCBI Synonym Full Names:vacuolar protein sorting 13 homolog A (S. cerevisiae)
NCBI Official Symbol:VPS13A  
NCBI Official Synonym Symbols:CHAC; CHOREIN  
NCBI Protein Information:vacuolar protein sorting-associated protein 13A
UniProt Protein Name:Vacuolar protein sorting-associated protein 13A
UniProt Synonym Protein Names:Chorea-acanthocytosis protein; Chorein
Protein Family:Vacuolar protein sorting-associated protein
UniProt Gene Name:VPS13A  
UniProt Entry Name:VP13A_HUMAN
Anti-VPS13A Antibody (CAB17419)Western blot analysis of extracts of U-87MG cells, using VPS13A antibody (CAB17419) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 3min.
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