dysferlin

Summary
Gene Symbol
  • Dysf
Organism
Mus musculus (house mouse)
External Links
NCBI Gene
26903
PubChem
26903
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Cell membrane
  • Cytoplasmic vesicle
  • Lipid-binding
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 6 entries
UniProt Protein Name
A0A0N4SVX9
E9Q423
Q9ESD7
  • Dystrophy-associated fer-1-like protein
  • Fer-1-like protein 1
A0A0N4SUN3
A0A0N4SV63
A0A0N4SWH3
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0070199 Miyoshi muscular dystrophy 1
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:0111187 distal myopathy with anterior tibial onset
DOID:11720 distal myopathy
DOID:11724 limb-girdle muscular dystrophy
DOID:9884 muscular dystrophy

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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: August 19, 2024