HACE1 Polyclonal Antibody, 50ul Site-directed Mutagenesis 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

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities

the intact fusion protein can be specifically eluted from the resin by the addition of excess free maltose

Stickler syndrome type I

Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping

HACE1 Polyclonal Antibody, 50ul Site-directed Mutagenesis Specific mutations in DYSF haveThis gene encodes a HECT domain and ankyrin repeat containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor.