DYSF

Name

dysferlin

Type

protein-coding

Position

71,453,495–71,686,763 (+)

Aliases

FER1L1, LGMD2B, LGMDR2, MMD1

Ensembl

ENSG00000135636

RefSeq RNA

NM_001130455.2, NM_001130976.2, NM_001130977.2, NM_001130978.2, NM_001130979.2

RefSeq protein

NP_001123927.1, NP_001124448.1, NP_001124449.1, NP_001124450.1, NP_001124451.1

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].

via MyGene.info

Gene · Ensembl

dysferlin

Symbol

DYSF

Biotype

Protein coding

Organism

Homo sapiens

Location

2:71,453,495-71,686,763

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

4ihb pdb.png

via Wikidata · CC0