This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: CHYYYLPWGN VKPVVVLSSY WEDISHRIET QNQLLGIADR LEAGLEQVHL ALKAQCSTED VDSLVAQLTD ELIAGCSQPL GDIHETPSAT HLDQYLYQLR THHLSQITEA ALALKLGHSE LPAALEQAED WLLRLRALA
Highest antigen sequence identity to the following orthologs: Mouse - 88%, Rat - 88%.
Dysferlin is the protein product of the 2p13 gene that is defective in patients with Limb-Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). Dysferlin is normally localized to the muscle plasma membrane. In patients with LGMD2B and MM, immunoreactivity to dysferlin is severely reduced or lost, depending on the type of mutation. This antibody is used for the characterization of LGMD2B and MM.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Dysferlin; dystrophy-associated fer-1-like 1; Dystrophy-associated fer-1-like protein; fer-1-like family member 1; Fer-1-like protein 1; FLJ00175; FLJ90168; limb girdle muscular dystrophy 2B (autosomal recessive)
Gene Aliases: DYSF; FER1L1; LGMD2B; MMD1
UniProt ID: (Human) O75923
Entrez Gene ID: (Human) 8291
Molecular Function: membrane trafficking regulatory protein