[KO Validated] MYOF Rabbit polyclonal antibody

Size

POA

SKU:: A15427
Additional Names:: FER1L3|HAE7|OF
Application:: ELISA, WB
Molecular Weight:: 250kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C 50% glycerol. Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human, Mouse
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLARRLTKVKNSRR
Uniprot:: Q9NZM1
Synonyms:: fer-1-like 3, myoferlin;fer-1-like family member 3;fer-1-like protein 3;FER1L3;HAE7;myoferlin
Extra Details:: Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.