ELK Biotechnology Dysferlin rabbit pAb

Dysferlin rabbit pAb

제품 정보

Cellular Localization

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein.
Colocalizes during muscle differentiation with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube.
Wounding of myotubes leads to focal enrichment at the injury site and relocalization in a Ca²⁺-dependent manner toward the plasma membrane.
Colocalizes with AHNAK, AHNAK2, and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast.
Reaches the plasma membrane through a caveolin-independent mechanism and is retained by caveolin at the plasma membrane (By similarity).

Background

dysferlin (DYSF) encodes a skeletal muscle protein of the ferlin family associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that mediate calcium-dependent membrane fusion, suggesting roles in membrane regeneration and repair.
The encoded protein binds caveolin-3, essential for caveolae formation in muscle cells. Mutations in this gene cause autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. Alternative splicing results in multiple transcript variants.
(Information provided by RefSeq, Aug 2008)