Dysferlin (Romeo) Rabbit mAb
$148.00 – $548.00
MMD1; FER1L1; LGMD2B; LGMDR2
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| Catalog No. | A19572 |
|---|---|
| Product Name | Dysferlin (Romeo) Rabbit mAb |
| Supplier Name | ABclonal, Inc. |
| Brand Name | Abclonal |
| Synonyms | MMD1; FER1L1; LGMD2B; LGMDR2 |
| Gene Name | DYSF |
| Protein Name | DYSF |
| Uniprot/Swissprot ID | O75923 |
| Entrez GeneID | 8291 |
| Clone | ARC2178 |
| Clonality | Monoclonal |
| Source/Host | Rabbit |
| Applications | WB, IHC-P |
| Reactivity | Human, Mouse |
| Conjugate | Unconjugated |
| Note | Products will be shipped from the warehouse in Massachusetts. Promotion is running from time to time. Welcome to send a request for quote to message@sydlabs.com. |
| Order Offline | Syd Labs, Inc. 4 Avenue E, Hopkinton, MA 01748 USA. Phone: 1-617-401-8149 Fax: 1-617-606-5019 Email: message@sydlabs.com |
Description
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.
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