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ATP7A (基因名), Copper-transporting ATPase 1 (蛋白名), atp7a_human.
产品名称:

Human ATP7A/ Copper-transporting ATPase 1 Recombinant Protein
转铜蛋白1

货号:

R15035h

商标:
EIAab®
监管等级:
别名:

Copper pump 1, Menkes disease-associated protein, MC1, MNK

序列号:
Q04656
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
Neurosciences
Human ATP7A Protein
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Human ATP7A Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
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R&D 技术数据
更多信息,请参阅手册,或联系我们的技术支持: tech@eiaab.com.
基因位点
Cytogenetic band: Xq21.1 by HGNC Xq21.1 by Entrez Gene Xq21.1 by Ensembl
ATP7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Monomer. Interacts with PDZD11. Interacts with ATOX1 and COMMD1 (PubMed:21667063).


功能:
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.


亚细胞位置:
Isoform 5 Endoplasmic reticulum


该产品尚未在任何出版物中被引用。

[1].
"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy."

[2].
"Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients."

[3].
"Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A."

[4].
"ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome."

[5].
"A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease."

[6].
"Evidence for a Menkes-like protein with a nuclear targeting sequence."

[7].
"Mutation spectrum of ATP7A, the gene defective in Menkes disease."

[8].
"The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal."

[9].
"Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome."

[10].
"Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA."
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