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Location
Corporate Headquarters
Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
Telephone Numbers
Customer Service: (800) 227-6666 / (650) 697-3600
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MYOF / Myoferlin
myoferlin
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.
| Gene Name: | myoferlin |
| Synonyms: | MYOF, Fer-1-like protein 3, FER1L3, KIAA1207, Myoferlin, Fer-1-like 3, myoferlin |
| Target Sequences: | NM_013451 NP_038479.1 Q9NZM1 |
Publications (1)
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