Anti-MYOF Antibody Picoband®

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.

1. Ariano, A., D'Apolito, M., Bova, M., Bellanti, F., Loffredo, S., D'Andrea, G., Intrieri, M., Petraroli, A., Maffione, A. B., Spadaro, G., Santacroce, R., Margaglione, M. A myoferlin gain-of-function variant associates with a new type of hereditary angioedema. (Letter) Allergy 75: 2989-2992, 2020. 2. Britton, S., Freeman, T., Vafiadaki, E., Keers, S., Harrison, R., Bushby, K., Bashir, R. The third human FER-1-like protein is highly similar to dysferlin. Genomics 68: 313-321, 2000. 3. Davis, D. B., Delmonte, A. J., Ly, C. T., McNally, E. M. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum. Molec. Genet. 9: 217-226, 2000.

At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.