dystrophin

Summary
Gene Symbol
  • DMD
Aliases
  • BMD
  • DXS142
  • DXS164
  • DXS206
  • DXS230
  • DXS239
  • DXS268
  • DXS269
  • DXS270
  • DXS272
  • muscular dystrophy, Duchenne and Becker types
Organism
Homo sapiens (human)
NCBI Gene
1756
HGNC
2928
PubChem
1756
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Actin-binding
  • Alternative promoter usage
  • Alternative splicing
  • Calcium
  • Cardiomyopathy
  • Cell membrane
  • Coiled coil
  • Cytoskeleton
  • Disease variant
  • Phosphoprotein
  • Postsynaptic cell membrane
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Synapse
  • Zinc-finger
Proteins
Displaying all 6 entries
UniProt Protein Name
A0A0S2Z3J7
Q16484
A0A0S2Z3B5
Q4G0X0
P11532
A7E212
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Dystrophin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 12 in total
DO ID Disease Name Source
DOID:0081164 dilated cardiomyopathy 3B
DOID:0110461 X-linked dilated cardiomyopathy
DOID:1059 intellectual disability
DOID:11723 Duchenne muscular dystrophy
DOID:12930 dilated cardiomyopathy
DOID:1561 cognitive disorder
DOID:1824 status epilepticus
DOID:4724 brain edema
DOID:767 muscular atrophy
DOID:8466 retinal degeneration

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024