铜转运蛋白质α链抗体
规格：1mg/1ml
英文名： ATP7A
别名： ATP 7A; ATPase Copper Transporting Alpha Polypeptide; ATPase Cu++ transporting alpha polypeptide (Menkes syndrome); ATPase Cu++ transporting alpha polypeptide; Copper pump 1; Copper transporting ATPas
分子量： 163kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human ATP7A C-
交叉反应：Human, Mouse, Rat, Dog, Cow, Horse, Rabbit,
细胞定位：细胞浆 细胞膜
铜转运蛋白质α链抗体产品介绍：background: Copper-transporting ATPase 1 is an integral membrane protein cycling constitutively between the trans-golgi network and the plasma membrane. It 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. Defects in ATP7A are the cause of Menkes syndrome; also known as kinky hair disease, an X-linked recessive disorder. Function: 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. Subunit: Monomer. Interacts with PDZD11. Subcellular Location: Golgi apparatus. trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note: 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. Isoform 3: Cytoplasm. cytosol. Isoform 5: Endoplasmic reticulum. Tissue Specificity: 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. DISEASE: Menkes铜转运蛋白质α链抗体 disease (MNKD) [MIM:309400]: 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. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. Note=The disease is caused by mutations affecting the gene represented in this entry. Occipital horn syndrome (OHS) [MIM:304150]: An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]: A neuromuscular disorder. Distal spinal muscular铜转运蛋白质α链抗体 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Contains 6 HMA domains. Gene ID: 538 Database links: Entrez Gene: 538 Human Entrez Gene: 11977 Mouse Entrez Gene: 24941 Rat Omim: 300011 Human SwissProt: Q04656 Human SwissProt: Q64430 Mouse SwissProt: P70705 Rat Unigene: 496414 Human Unigene: 254297 Mouse Unigene: 10554 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
铜转运蛋白质α链抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：**学 通道蛋白 转运蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid