DYSF, dysferlin

DYSF, dysferlin

• The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

• Gene Synonyms (dysferlin, dystrophy-associated fer-1-like 1, fer-1-like family member 1, fer-1-like protein 1, limb girdle muscular dystrophy 2B (autosomal recessive), FER1L1, LGMD2B, LGMDR2, MMD1,)
• NCBI Gene ID: 8291
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O75923
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

dysferlin interacts with:

• centrin 2
  FtsJ RNA 2'-O-methyltransferase 1
  HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
  histone deacetylase 6
  kinesin family member 1B
  moesin
  RHO family interacting cell polarization regulator 2
  shugoshin 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.