Anti-c20orf72抗体Representing about 2% of human DNA, chromosome 20 consists of approximay 63 million bases and 600 genes. Chromosome 20 contains

产品编号 yb-15115R
英文名称Anti-c20orf72抗体
中文名称 20号染色体开放阅读框72抗体
别    名 Chromosome 20 open reading frame 72; Hypothetical protein LOC92667; MGME1_HUMAN.
Anti-c20orf72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, Chicken, Dog, Cow, Horse, Rabbit, Sheep, 
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 39kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human c20orf72
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 C20orf72 gene product has been provisionally designated C20orf72 pending further characterization.

Function:
Single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. 

Subcellular Location:
Mitochondrion.

DISEASE:
Note=Defects in MGME1 are a cause of cause of progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOAX). progressive external ophthalmoplegia with mitochondrial DNA deletions is characterized by external ophthalmoplegia, emaciation and respiratory failure. Muscle biopsies show mtDNA depletion and multiple mtDNA deletions.

Similarity:
Belongs to the MGME1 family. 

Database links:
UniProtKB/Swiss-Prot: Q9BQP7.1

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