HACE1 Polyclonal Antibody, 50ul Site-directed Mutagenesis and epidermal growth factor receptor/protein

and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis

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

Stickler syndrome type I

GO annotations related to this gene include receptor activity and carbohydrate binding

HACE1 Polyclonal Antibody, 50ul Site-directed Mutagenesis and epidermal growth factor receptor/proteinThis 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.