MYOF

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]

Description

Myoferlin

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

10 (93306429 - 93482334)

Ensembl ID

ENSG00000138119  (ver. 103.38)

Orthologs

Mouse Myof: ENSMUSG00000048612

UniProt

Q9NZM1

neXtProt

NX_Q9NZM1

Human splice variants
Mouse splice variants

Protein structure