CD14 Monoclonal Antibody, 100ul Cellular Function Assays 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

translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome

Chromosomal translocations between this gene and the ret tyrosine kinase gene

NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines| oxidant-free radicals| ultraviolet irradiation| and bacterial or viral products

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation

CD14 Monoclonal Antibody, 100ul Cellular Function Assays Specific mutations in DYSF haveThe protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein.