Search on: DYSTROPHIN 
Descriptors Found: 1
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Descriptor English:   Dystrophin 
Descriptor Spanish:   distrofina 
Descriptor Portuguese:   Distrofina 
Tree Number:   D12.776.210.500.250
D12.776.220.250
D12.776.543.250
Definition English:   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. 
Indexing Annotation English:   a muscle protein: see MeSH definition for relation to musc dystrophy; /biosyn /drug eff /physiol /ultrastruct permitted
See Related English:   Mice, Inbred mdx
Muscular Dystrophy, Duchenne
 
History Note English:   91 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   28916 
Unique Identifier:   D016189 

Occurrence in VHL:
 

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