FER1L3

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Myoferlin
Protein FER1L3 PDB 2dmh.png
PDB rendering based on 2dmh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MYOF ; FER1L3
External IDs OMIM604603 MGI1919192 HomoloGene40882 GeneCards: MYOF Gene
RNA expression pattern
PBB GE FER1L3 201798 s at tn.png
PBB GE FER1L3 211864 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 26509 226101
Ensembl ENSG00000138119 ENSMUSG00000048612
UniProt Q9NZM1 Q69ZN7
RefSeq (mRNA) NM_013451 NM_001099634
RefSeq (protein) NP_038479 NP_001093104
Location (UCSC) Chr 10:
95.07 – 95.24 Mb
Chr 19:
37.9 – 38.04 Mb
PubMed search [1] [2]

Myoferlin is a protein that in humans is encoded by the MYOF gene.[1][2][3][4]

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 natures have not been determined.[4]

References[edit]

  1. ^ Davis DB, Delmonte AJ, Ly CT, McNally EM (Feb 2000). "Myoferlin, a candidate gene and potential modifier of muscular dystrophy". Hum Mol Genet 9 (2): 217–26. doi:10.1093/hmg/9.2.217. PMID 10607832. 
  2. ^ Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R (Nov 2000). "The third human FER-1-like protein is highly similar to dysferlin". Genomics 68 (3): 313–21. doi:10.1006/geno.2000.6290. PMID 10995573. 
  3. ^ Bernatchez PN, Acevedo L, Fernandez-Hernando C, Murata T, Chalouni C, Kim J, Erdjument-Bromage H, Shah V, Gratton JP, McNally EM, Tempst P, Sessa WC (Oct 2007). "Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function". J Biol Chem 282 (42): 30745–53. doi:10.1074/jbc.M704798200. PMID 17702744. 
  4. ^ a b "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)". 

Further reading[edit]