Dystrophin Recombinant Rabbit Monoclonal Antibody [JF1-022] (ET1702-98)

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 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.