UNIPROT #

P11532

PROTEIN NAME

Dystrophin

SYNONYMS

BMD antibody; CMD3B antibody; DMD antibody; DMD_HUMAN antibody; Duchenne muscular dystrophy protein antibody; Dystrophin antibody; Muscular dystrophy Duchenne and Becker types antibody

TISSUE SPECIFICITY

Expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Expressed in brain, muscle, kidney, lung and testis. Most tissues contain transcripts of multiple isoforms. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells.

DEVELOPMENTAL STAGE

Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. Isoform 16: Detected in all embryonic tissues examined.

SUBCELLULAR LOCATION

Cell membrane, Cytoplasm, Cell junction.

FUNCTION

Dystrophin-glycoprotein complex (DGC) connects the F-Actin cytoskeleton on the inner surface of muscle fibers to the surrounding extracellular matrix, through the cell membrane interface. A deficiency in this protein contributes to Duchenne (DMD) and Becker (BMD) muscular dystrophies. The human dystrophin gene measures 2.4 megabases, has more than 80 exons, produces a 14 kb mRNA and contains at least eight independent tissue-specific promoters and two poly A sites. The dystrophin mRNA can undergo differential splicing and produce a range of transcripts that encode a large set of proteins. Dystrophin represents approximately 0.002% of total striated muscle protein and localizes to triadic junctions in skeletal muscle, where it is thought to influence calcium ion homeostasis and force transmission.