Anti-Dysferlin/DYSF Antibody, clone 10H3.1

Descrição detalhada : Dysferlin (UniProt O75923; also known as Dystrophy-associated fer-1-like 1 protein, Fer-1-like family member 1, Fer-1-like protein 1, Limb girdle muscular dystrophy 2B (autosomal recessive) is encoded by the DYSF (also known as FER1L1, LGMD2B, MMD1) gene (Gene ID 8291) in human. Dysferlin is a member of the ferlin family of calcium-dependent phospholipid-binding proteins involved in membrane vesicle fusion, membrane repair, T-tubule stability, and calcium homeostasis. Defects in dysferlin function/expression leads to muscular dystrophies (dysferlinopathies) that include Miyoshi myopathy (MM), limb-girdle muscular dystrophy type 2B (LGMD-2B), and distal myopathy with anterior tibial onset (DMAT).
Sinónimos : Dysferlin, Dystrophy-associated fer-1-like protein, Fer-1-like protein 1, Dysferlin/DYSF
Armazenamento : +2°C to +8°C
Embalagem : 1X1EA