OTUD4 Polyclonal Antibody, 20ul Human Genome Knockout Libraries 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

Caspase 2 may function in stress-induced cell death pathways

a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors

polymorphism: there seems to be a deletion in the gene coding for this protein in about 98% of the population

OTUD4 Polyclonal Antibody, 20ul Human Genome Knockout Libraries Specific mutations in DYSF haveAlternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV 1 infected cells.