|Immunohistochemistry (Paraffin) (IHC (P))||1:50|
|Western Blot (WB)||1:25|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Synthetic peptide derived from C-terminus of human dysferlin.|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS, pH 7.6, with 1% BSA|
|Contains||<0.1% sodium azide|
|Storage conditions||4° C, do not freeze|
Heat-mediated antigen retrieval is recommended prior to staining, using a 10mM citrate buffer, pH 6.0, for 10 minutes followed by cooling at room temperature for 20 min. Following antigen retrieval, incubate samples with primary antibody for 10 min at room temperature. A suggested positive control is skeletal muscle tissue.
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.
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; FER1L1; LGMD2B; limb girdle muscular dystrophy 2B (autosomal recessive); MMD1
Gene Aliases: DYSF; FER1L1; LGMD2B; MMD1
UniProt ID: (Human) O75923
Entrez Gene ID: (Human) 8291
Molecular Function: membrane traffic protein
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