Number of the records: 1
dystrofín
Record number d016189 Date 06.06.2025 Type M - MESH Topical term dystrofín See also (Skutočné meno) myši inbredné mdx
(Skutočné meno) Duchenneova svalová dystrofia
(Later heading) Duchenneova svalová dystrofia
UDC D12.776.210.500.250D12.776.220.250D12.776.543.250 Note A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa. subject heading
Number of the records: 1