Dysferlin (Romeo) Rabbit mAb (AMR11603N)
Product Specifications
Background
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]
Overview
We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality Dysferlin (Romeo) Rabbit mAb (APR30380N2) .
Synonyms
FER1L1; LGMD2B; MMD1
Gene ID
8291
UniProt
O75923
Dilution
WB 1:500 - 1:2000 IHC 1:50 - 1:200
Form
Liquid
Buffer
Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Molecular Weight
Calculated MW: 280kDa Observed MW: 280KDa
Storage Conditions
Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.
Gene ID URL
https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8291
Uniprot URL
https://www.uniprot.org/uniprot/O75923
AA Sequence
Email for sequence
Available Sizes
Frequently Asked Questions
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