UNIPROT #

O75923

PROTEIN NAME

Dysferlin

SYNONYMS

DMAT antibody; DYSF antibody; DYSF_HUMAN antibody; Dysferlin antibody; Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive) antibody; Dysferlin limb girdle muscular dystrophy 2B antibody; Dystrophy associated fer 1 like 1 antibody; Dystrophy associated fer 1 like protein antibody; Dystrophy associated fer1 like 1 antibody; Dystrophy associated fer1 like protein antibody; Dystrophy-associated fer-1-like protein antibody; Fer 1 like protein 1 antibody; Fer-1-like protein 1 antibody; Fer1 like protein 1 antibody; FER1L1 antibody; FLJ00175 antibody; FLJ90168 antibody; LGMD 2B antibody; LGMD2B antibody; Limb girdle muscular dystrophy 2B (autosomal recessive) antibody; Limb girdle muscular dystrophy 2B antibody; Miyoshi myopathy antibody; MM antibody; MMD1 antibody

SEQUENCE SIMILARITIES

Belongs to the ferlin family.

TISSUE SPECIFICITY

Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.

DEVELOPMENTAL STAGE

Expression in limb tissue from 5-6 weeks embryos; persists throughout development.

SUBCELLULAR LOCATION

Cell membrane, Cytoplasmic vesicle membrane.

FUNCTION

Dysferlin is a muscle-specific protein that is essential for normal muscle function and development. Mutations in the human dysferlin gene, DYSF, which maps to chromosome 2p13.2, are associated with limb girdle muscular dystrophy-2B (LGMD-2B) and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). Dysferlin localizes to the muscle fiber membrane, but is absent in MM and LGMD-2B muscle. Dysferlin is detected in 5-6 week embryos, when limbs begin to form regional differentiation. Although it is not essential for initial myogenesis, dysferlin appears to be critical for sustained normal function in mature muscle. It has been suggested that the absence of dysferlin during development gives rise to the disease phenotype in adulthood. Identical mutations in the dysferlin gene can produce more than one myopathy phenotype, indicating that additional genes and/or other factors are also involved in the clinical phenotype. The DYSF gene has no homology to any other known mammalian gene, but the protein product is related to the spermatogenesis factor fer-1 of Caenorhabditis elegans. The name “dysferlin” combines the role of the gene in producing muscular dystrophy with its homology to C. elegans.