Topo II Alpha Polyclonal Antibody, 50ul[BT-AP09130] Cell Culture Flasks Specific mutations in DYSF have

Specific mutations in DYSF have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy

Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins

which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB

This complex is a heterotetramer composed of two large

Mutations in this gene have been associated with congenital myasthenic syndrome

Topo II Alpha Polyclonal Antibody, 50ul[BT-AP09130] Cell Culture Flasks Specific mutations in DYSF haveTOP2A encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering