|Homo sapiens Gene: MYOF|
|Last Modified||2014-10-13 [Report errors or provide feedback]|
|Useful resources||Stemformatics EHFPI ImmGen|
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. [provided by RefSeq, Dec 2008]
|Genomic Location||Chromosome 10:93306429-93482317|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Signaling events mediated by VEGFR1 and VEGFR2
|UniProt Splice Variant|
|RNA Seq Atlas|