Representing about 2% of human DNA, chromosome 20 consists of approximately 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.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Human
Mouse, Rat, Rabbit, Sheep, Cow, Chicken, Dog, Horse
1:500-2000
交叉反应
交叉反应: Human (predicted: Mouse, Rat, Rabbit, Sheep, Cow, Chicken, Dog, Horse)
相关产品
暂无相关产品
靶标
基因名
MGME1
蛋白名
Mitochondrial genome maintenance exonuclease 1
亚细胞定位
Mitochondrion.
疾病
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.
相似性
Belongs to the MGME1 family.
功能
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.