Anti-C20orf7抗体Representing about 2% of human DNA, chromosome 20 consists of approximay 63 million bases and 600 genes.

产品编号 yb-15113R
英文名称 Anti-C20orf7抗体
中文名称 20号染色体开放阅读框7抗体
别    名 C20orf7; chromosome 20 open reading frame 7; CT007_HUMAN; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; NDUFAF5; Probable methyltransferase C20orf7, mitochondrial.
Anti-C20orf7抗体
说 明 书 0.2ml  
研究领域 细胞生物  免疫学  神经生物学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=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.
分 子 量 35kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human C20orf7
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed
产品介绍 background:
Representing about 2% of human DNA, chromosome 20 consists of approximay 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf7 gene product has been provisionally designated C20orf7 pending further characterization.

Function:
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.

Subcellular Location:
Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane. 

DISEASE:
Defects in NDUFAF5 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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. 
Defects in NDUFAF5 are a cause of Leigh syndrome (LS) [MIM:256000]. An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. 

Similarity:
Belongs to the methyltransferase superfamily. 

Database links:
UniProtKB/Swiss-Prot: Q5TEU4.1

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.