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Antibody detects endogenous levels of total Dysferlin.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dysferlin; dysferlin variant a; dysferlin_a; 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)
基因别名: 2310004N10Rik; AI604795; D6Pas3; DYSF; FER1L1; LGMD2B; MMD1
UniProt ID: (Human) O75923, (Mouse) Q9ESD7
Entrez Gene ID: (Human) 8291, (Mouse) 26903, (Rat) 312492