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DYSTROPHIN
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DeCS
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
:
administration & dosage
adverse effects
agonists
antagonists & inhibitors
analysis
biosynthesis
blood
cerebrospinal fluid
chemistry
classification
chemical synthesis
contraindications
drug effects
deficiency
diagnostic use
economics
genetics
history
immunology
isolation & purification
metabolism
pharmacology
physiology
pharmacokinetics
poisoning
radiation effects
supply & distribution
secretion
standards
toxicity
therapeutic use
ultrastructure
urine
Record Number:
28916
Unique Identifier:
D016189
Occurrence in VHL
:
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DeCS
SciELO
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