FER1L3

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MYOF
Protein FER1L3 PDB 2dmh.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MYOF, FER1L3, myoferlin
External IDs MGI: 1919192 HomoloGene: 40882 GeneCards: MYOF
RNA expression pattern
PBB GE FER1L3 211864 s at fs.png

PBB GE FER1L3 201798 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013451
NM_133337

NM_001099634
NM_001302140
NM_177035

RefSeq (protein)

NP_038479
NP_579899

NP_001093104
NP_001289069

Location (UCSC) Chr 10: 93.31 – 93.48 Mb Chr 19: 37.9 – 38.04 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myoferlin is a protein that in humans is encoded by the MYOF gene.[3][4][5][6]

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.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. PMID 10607832. doi:10.1093/hmg/9.2.217. 
  4. ^ 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. PMID 10995573. doi:10.1006/geno.2000.6290. 
  5. ^ 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. PMID 17702744. doi:10.1074/jbc.M704798200. 
  6. ^ a b "Entrez Gene: FER1L3 fer-1-like 3, myoferlin (C. elegans)". 

Further reading[edit]