Dystrophin Recombinant Rabbit Monoclonal Antibody [PSH19-15] (HA724049)

UNIPROT #

P11531

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

SUBCELLULAR LOCATION

Cell membrane, sarcolemma, Cytoplasm, cytoskeleton, Postsynaptic cell membrane.

FUNCTION

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa. Dystrophin is coded for by the DMD gene – the largest known human gene, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. The primary transcript in muscle measures about 2,100 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79-exon muscle transcript codes for a protein of 3685 amino acid residues. Spontaneous or inherited mutations in the dystrophin gene can cause different forms of muscular dystrophy, a disease characterized by progressive muscular wasting. The most common of these disorders caused by genetic defects in dystrophin is Duchenne muscular dystrophy.