dystrophin

(redirected from dystropin)
Also found in: Medical.

dys·tro·phin

 (dĭs′trə-fĭn′)
n.
A large protein that stabilizes muscle fibers by forming a link between the internal cytoskeleton and a protein complex in the plasma membrane that is connected to the extracellular matrix. Genetic mutations resulting in the absence of dystrophin cause Duchenne muscular dystrophy, and those resulting in insufficient or abnormal dystrophin cause Becker muscular dystrophy.

dystrophin

(ˈdɪstrəfɪn)
n
(Pathology) a protein, the absence of which is believed to cause muscular dystrophy
References in periodicals archive ?
The DMD gene was shown to be an extremely large gene, spanning more than 2000 kb of genomic DNA, composed of 79 exons that encoded a 14-kb transcript which was translated into a protein named dystropin (4).
Today several therapies (such as antisense oligonucleotides and antibiotics) are being applied according to the specific dystropin mutation, thus requiring accurate and complete molecular analysis.
The genes surrounding the GK gene, from telomere to centromere, are Xpter-interleukin 1 receptor accessory protein-like 1 (IL1RAPL1); nuclear receptor subfamily 0, group B, member 1 (NR0B1); GK, dystropin (DMD); and ornithine carbamoyltransferase (OTC)-cent.
In muscle, the intracellular side of transmembranic [beta]-dystroglycan binds to a variety of cytoplasmic molecules, such as dystropin, which in turn interacts with the cytoskeleton of cells.
DMD and BMD are both inherited in an X-linked recessive pattern resulting from mutations in the dystropin gene on Xp21.
Affected males and female carriers are identified by the detection of duplicated or deleted exons in the dystropin gene.
The absence of dystropin is proposed to lead to sarcolemmal instability and muscle cell necrosis (21, 22).
4) Partial intragenic deletion or duplications of the dystropin gene account for as much as 72% of the DMD/BMD cases [2-7].