製品の概要

  • 製品名
  • 製品の詳細
    Chicken polyclonal to ATP7A
  • アプリケーション
    適用あり: WBmore details
  • 種交差性
    交差種: Mouse, Human
    交差が予測される動物種: Rat
  • 免疫原

    Recombinant fragment, corresponding to amino acids 1407-1500 of Human ATP7A.

製品の特性

アプリケーション

Our Abpromise guarantee covers the use of ab13995 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

アプリケーション Abreviews 特記事項
WB 1/1000. Predicted molecular weight: 163 kDa.

ターゲット情報

  • 機能
    May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.
  • 組織特異性
    Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.
  • 関連疾患
    Defects in ATP7A are the cause of Menkes disease (MNKD) [MIM:309400]; also known as kinky hair disease. MNKD is an X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes.
    Defects in ATP7A are the cause of occipital horn syndrome (OHS) [MIM:304150]; also known as X-linked cutis laxa. OHS is an X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.
    Defects in ATP7A are a cause of distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]. DSMAX3 is a neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
  • 配列類似性
    Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
    Contains 6 HMA domains.
  • ドメイン
    The C-terminal di-leucine, 1487-Leu-Leu-1488, is an endocytic targeting signal which functions in retrieving recycling from the plasma membrane to the TGN. Mutation of the di-leucine signal results in the accumulation of the protein in the plasma membrane.
  • 細胞内局在
    Endoplasmic reticulum; Cytoplasm > cytosol and Golgi apparatus > trans-Golgi network membrane. Cell membrane. Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.
  • Information by UniProt
  • 参照データベース
  • 別名
    • ATP 7A antibody
    • ATP7A antibody
    • ATP7A_HUMAN antibody
    • ATPase copper transporting alpha polypeptide antibody
    • ATPase Cu++ transporting alpha polypeptide (Menkes syndrome) antibody
    • ATPase Cu++ transporting alpha polypeptide antibody
    • Copper pump 1 antibody
    • Copper transporting ATPase 1 antibody
    • Copper-transporting ATPase 1 antibody
    • Cu++ transporting P type ATPase antibody
    • DSMAX antibody
    • FLJ17790 antibody
    • MC 1 antibody
    • MC1 antibody
    • Menkes disease associated protein antibody
    • Menkes disease-associated protein antibody
    • Menkes syndrome antibody
    • MK antibody
    • MNK antibody
    • OHS antibody
    • OTTHUMP00000062077 antibody
    • SMAX3 antibody
    see all

プロトコール

参考文献

This product has been referenced in:
  • Fieten H  et al. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9:25-38 (2016). WB . Read more (PubMed: 26747866) »
  • Chen DB  et al. Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice. PLoS One 7:e37709 (2012). WB ; Mouse . Read more (PubMed: 22629446) »

See all 6 Publications for this product

レビューと Q&A

Application
Immunocytochemistry/ Immunofluorescence
Sample
Mouse Cell (NSC-34 murine motor neuron cell line, differentiat)
Permeabilization
Yes - 0.5%NP-40, 5min
Specification
NSC-34 murine motor neuron cell line, differentiat
Blocking step
Scy-tek SuperBlock as blocking agent for 1 hour(s) and 0 minute(s) · Concentration: 100% · Temperature: 25°C
Fixative
Paraformaldehyde
Username

Abcam user community

Verified customer

投稿 Mar 26 2016

Abcam guarantees this product to work in the species/application used in this Abreview.
Application
Western blot
Sample
Human Cell lysate - whole cell (Human fibroblast)
Gel Running Conditions
Reduced Denaturing (Gradient, 4-12%)
Loading amount
35 µg
Specification
Human fibroblast
Blocking step
Licor superblock as blocking agent for 1 hour(s) and 0 minute(s) · Concentration: 100% · Temperature: 25°C
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Abcam user community

Verified customer

投稿 Mar 22 2016

Abreviews
Application
Western blot
Sample
Mouse Cell lysate - other (intestine)
Loading amount
30 µg
Specification
intestine
Gel Running Conditions
Non-reduced Denaturing (SDS)
Blocking step
Milk as blocking agent for 1 hour(s) and 0 minute(s) · Concentration: 5% · Temperature: 25°C
Username

Liwei Xie

Verified customer

投稿 Aug 18 2011

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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