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

GO annotations related to this gene include calcium ion binding and identical protein binding

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix

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

circadian rhythm

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.