OTUD4 Polyclonal Antibody, 20ul Human Genome Knockout Libraries The orthologous mouse gene is

The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele

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

and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma

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 The orthologous mouse gene isAlternatively 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.