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Descriptor English: Dystrophin
Descriptor Spanish: Distrofina
Descriptor distrofina
Scope note: Proteína muscular localizada en las membranas de superficie, que es el producto del gen de la distrofia muscular de Duchenne/Becker. Los individuos con distrofia muscular de Duchenne por lo general carecen totalmente de distrofina, mientras que aquellos con distrofia muscular de Becker tienen una cantidad alterada de distrofina. Comparte las características de otras proteínas citoesqueléticas como la ESPECTRINA y la alfa-actitinina, pero la función precisa de la distrofina no está clara. Un posible papel podría ser preservar la integridad y alineamiento de la membrana plasmática a las miofibrillas durante la contracción y la relajación muscular. PM 400 kD.
Descriptor Portuguese: Distrofina
Descriptor French: Dystrophine
Tree number(s): D12.776.210.500.250
D12.776.220.250
D12.776.543.250
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D016189
Scope 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.
Annotation: a muscle protein: see MeSH definition for relation to musc dystrophy; /biosyn /drug eff /physiol /ultrastruct permitted
Allowable Qualifiers: AD administration et posologie
AE effets indésirables
AG agonistes
AI antagonistes et inhibiteurs
AN analyse
BI biosynthèse
BL sang
CF liquide cérébrospinal
CH composition chimique
CL classification
CS synthèse chimique
DE effets des médicaments et des substances chimiques
DF déficit
EC économie
GE génétique
HI histoire
IM immunologie
IP isolement et purification
ME métabolisme
PD pharmacologie
PH physiologie
PK pharmacocinétique
PO intoxication
RE effets des radiations
SD ressources et distribution
ST normes
TO toxicité
TU usage thérapeutique
UL ultrastructure
UR urine
Related: Myopathie de Duchenne MeSH
Souris de lignée mdx MeSH
DeCS ID: 28916
Unique ID: D016189
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1990/06/17
Revision Date: 1999/11/03
Dystrophine - Preferred
Concept UI M0024706
Preferred term Dystrophine



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