ANO3 Antibody

Code CSB-PA001814GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
ANO3
Alternative Names
ANO3 antibody; C11orf25 antibody; TMEM16C antibody; GENX-3947Anoctamin-3 antibody; Transmembrane protein 16C antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human ANO3
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity. Does not exhibit calcium-activated chloride channel (CaCC) activity.
Gene References into Functions
  1. Study reports a novel c.1969G>A mutation in the ANO3 gene in a family presenting with a typical dystonia phenotype consistent with previous reports: onset mainly after the fourth decade, begins as cervical dystonia, but evolves to segmental dystonia, without leg involvement or any generalized dystonia. PMID: 27392807
  2. This study demonstrated that whole-exome sequencing show reveled ANO3 mutation with early-onset generalized dystonia. PMID: 27666935
  3. HTRA2 and ANO3 mutations are not common causes of essential tremor PMID: 27881096
  4. This study demonstrated that Mutations in ANO3 may cause Dystonia. PMID: 25847575
  5. rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity. PMID: 23872594
  6. ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks PMID: 24442708
  7. Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in primary torsion dystonia pathogenesis. PMID: 24151159
  8. Our findings indicate that rare exonic variants in ANO3 do not play a major role in the development of essentail tremor PMID: 24094724
  9. Mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. PMID: 23200863
  10. The significant single nucleotide polymorphisms are located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes. PMID: 22657408
  11. C11orf25, FLJ10261 (ORAOV2), C12orf3 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm. PMID: 12739008

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Involvement in disease
Dystonia 24 (DYT24)
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Protein Families
Anoctamin family
Tissue Specificity
Highly expressed in the forebrain striatum.
Database Links

HGNC: 14004

OMIM: 610110

KEGG: hsa:63982

STRING: 9606.ENSP00000256737

UniGene: Hs.577269

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