Myoferlin

Myoferlin (MYOF) is a calcium/phospholipid-binding protein that functions in plasmalemma repair and membrane resealing in response to mechanical stress, particularly in endothelial cells (UniProt: Q9NZM1). It also participates in endocytic recycling and regulates VEGF signal transduction through modulation of the KDR receptor. The protein is primarily associated with hereditary angioedema type 7 (HAE7), an autosomal dominant disorder characterized by recurrent swelling of facial and oral tissues (UniProt: Q9NZM1).

In Alzheimer's disease brain tissue, myoferlin is significantly upregulated compared to age-matched controls, with a mean log2 fold-change of 0.40 across analyzed subcellular fractions in post-mortem samples (Chaparral AD proteomics). This upregulation was detected via TMT-labeled quantitative proteomics across four subcellular compartments (P2, P3, S2, S3). The functional relevance of elevated myoferlin in AD pathology warrants further investigation, particularly given its roles in membrane integrity and cellular stress responses that may be altered in neurodegeneration.