A19572
Dysferlin Rabbit monoclonal antibody
Size
POA
- SKU:
- A19572
- Additional Names:
- Dysferlin (Romeo)|FER1L1|LGMD2B|LGMDR2|MMD1
- Application:
- ELISA, WB, IHC-P
- Molecular Weight:
- 280kDa
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Avoid freeze/thaw cycles.
- Supplier:
- Abclonal
- Host:
- Rabbit
- Reactivities:
- Human
- Immunogen:
- Synthetic peptide. This information is considered to be commercially sensitive.
- Formulation:
- Unmodified
- Sequence:
- FEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDV
- Uniprot:
- O75923
- Synonyms:
- 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;LGMDR2;limb girdle muscular dystrophy 2B (autosomal recessive);MMD1
- Extra Details:
- The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants.
- Shipping Conditions:
- Blue Ice