Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for DYSF (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8291
Official gene symbolDYSF
Full namedysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Aliases,FER1L1,FLJ00175,FLJ90168,LGMD2B,
Gene summaryThe 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]
LocationChromosome: 2   Locus: 2p13.3-p13.1
Gene position71680753 - 71913893  Map Viewer
Gene orientationplus
Gene size233141 bp
Gene sequence
OMIM ID603009