Anti-Dysferlin (Romeo) Antibody (CAB19572)
- SKU:
- CAB19572
Description
| Product Name: | Dysferlin (Romeo) Rabbit mAb |
| Product Code: | CAB19572 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | FER1L1, LGMD2B, MMD1 |
| Applications: | WB, IHC |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | A synthesized peptide derived from human Dysferlin (Romeo) |
| Applications: | WB, IHC |
| Recommended Dilutions: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
| Reactivity: | Human, Mouse |
| Positive Samples: | RD |
| Immunogen: | A synthesized peptide derived from human Dysferlin (Romeo) |
| Purification Method: | Affinity purification |
| Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 8291 |
| Uniprot: | O75923 |
| Calculated MW: | 280kDa |
| Observed MW: | 280KDa |
| UniProt Protein Function: | Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. |
| NCBI Summary: | 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] |
| UniProt Code: | O75923 |
| NCBI GenInfo Identifier: | 195976821 |
| NCBI Gene ID: | 8291 |
| NCBI Accession: | NP_001123927.1 |
| UniProt Secondary Accession: | O75923,A0FK00, B1PZ70, B1PZ71, B1PZ72, B1PZ73, B1PZ74 B1PZ75, B1PZ76, B1PZ77, B1PZ78, B1PZ79, |
| UniProt Related Accession: | O75923 |
| Molecular Weight: | |
| NCBI Full Name: | dysferlin isoform 2 |
| NCBI Synonym Full Names: | dysferlin |
| NCBI Official Symbol: | DYSF |
| NCBI Official Synonym Symbols: | MMD1; FER1L1; LGMD2B |
| NCBI Protein Information: | dysferlin |
| UniProt Protein Name: | Dysferlin |
| UniProt Synonym Protein Names: | Dystrophy-associated fer-1-like protein; Fer-1-like protein 1 |
| Protein Family: | Dysferlin |
| UniProt Gene Name: | DYSF |
Additional Information
Product Type: |
Antibody |
Antibody Type: |
Monoclonal Antibody |
Reactivity: |
Human |
Reactivity: |
Mouse |
Host Species: |
Rabbit |
Isotype: |
IgG |
Synonyms: |
FER1L1 |
Synonyms: |
LGMD2B |
Synonyms: |
MMD1 |
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