製品の概要

  • 製品名Recombinant Human ATP7A protein
  • タンパク質長Protein fragment

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q04656
    • 生物種Human
    • 配列FLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDR IVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL
    • 分子量36 kDa including tags
    • 領域1406 to 1500

関連製品

特性

Our Abpromise guarantee covers the use of ab114343 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

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 mg/ml.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • ATP 7A
    • ATP7A
    • ATP7A_HUMAN
    • ATPase copper transporting alpha polypeptide
    • ATPase Cu++ transporting alpha polypeptide
    • ATPase Cu++ transporting alpha polypeptide (Menkes syndrome)
    • Copper pump 1
    • Copper transporting ATPase 1
    • Copper-transporting ATPase 1
    • Cu++ transporting P type ATPase
    • DSMAX
    • FLJ17790
    • MC 1
    • MC1
    • Menkes disease associated protein
    • Menkes disease-associated protein
    • Menkes syndrome
    • MK
    • MNK
    • OHS
    • OTTHUMP00000062077
    • SMAX3
    see all
  • 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

Recombinant Human ATP7A protein 画像

  • ab114343 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

Recombinant Human ATP7A protein (ab114343) 使用論文

ab114343 has not yet been referenced specifically in any publications.

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