GTX648208
Dysferlin antibody [HL6123]
Eine Lieferung in diese Region ist nicht möglich.
- SKU:
- GTX648208
- Zusätzliche Namen:
- dysferlin , FER1L1 , LGMD2B , LGMDR2 , MMD1
- Anwendung:
- WB
- Physischer Zustand:
- Liquid
- Spezies-Reaktivität:
- Human
- Aufreinigung:
- Protein A Purified
- Lagerbedingungen:
- 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Hersteller:
- Genetex
- Host:
- Rabbit
- Reaktivitäten:
- Human
- Buffer:
- PBS, no preservatives.
- Immunogen:
- Synthetic peptide encompassing a sequence within the Intracellular domain of human Dysferlin. The exact sequence is proprietary.
- Klon:
- HL6123
- Uniprot:
- O75923
- Synonyme:
- 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
- Weitere 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. [provided by RefSeq, Aug 2008]
- Versandbedingungen:
- Blue Ice