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NDUFAF6 Rabbit pAb (bs-19077R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
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產品編號 bs-19077R
英文名稱 NDUFAF6 Rabbit pAb
中文名稱 NDUFAF6蛋白抗體
別    名 CCDC113; C8orf38; NDUF6_HUMAN; Coiled-coil domain-containing protein 113 Gene names; DKFZp434N1418; HSPC065; NADH dehydrogenase(ubiquinone) complex I assembly factor 6; Putative phytoene synthase; UPF0551 protein C8orf38 mitochondrial.  
研究領域 腫瘤  細胞生物  神經生物學  信號轉導  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 33 kDa
檢測分子量
細胞定位 細胞核 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human NDUFAF6: 201-300/333 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.

Subcellular Location:
Isoform 1: Mitochondrion inner membrane. Note: Peripherally localized on the matrix face of the mitochondrial inner membrane. Ref.7
Isoform 2: Cytoplasm. Nucleus

DISEASE:
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Note: The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the NDUFAF6 family.

SWISS:
Q330K2

Gene ID:
137682

Database links:

Entrez Gene: 137682 Human

Entrez Gene: 523017 Cow

Entrez Gene: 76947 Mouse

Entrez Gene: 297821 Rat

Omim: 612392 Human

SwissProt: A7YVD7 Cow

SwissProt: Q330K2 Human

SwissProt: A2AIL4 Mouse

SwissProt: D3ZN43 Rat

Unigene: 729144 Human



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