Myoferlin

MYOF
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYOF, FER1L3, myoferlin, HAE7
External IDsOMIM: 604603; MGI: 1919192; HomoloGene: 40882; GeneCards: MYOF; OMA:MYOF - orthologs
Orthologs
SpeciesHumanMouse
Entrez

26509

226101

Ensembl

ENSG00000138119

ENSMUSG00000048612

UniProt

Q9NZM1

Q69ZN7

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 MbChr 19: 37.89 – 38.03 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Myoferlin is a protein that in humans is encoded by the MYOF gene.

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.

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.