Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MYOF (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID26509
Official gene symbolMYOF
Full namemyoferlin
Aliases,FER1L3,FLJ36571,FLJ90777,
Gene summaryMutations 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]
LocationChromosome: 10   Locus: 10q24
Gene position95242074 - 95066186  Map Viewer
Gene orientationminus
Gene size175889 bp
Gene sequence
OMIM ID604603