muscle associated receptor tyrosine kinase

Summary
Gene Symbol
  • MUSK
Organism
Homo sapiens (human)
NCBI Gene
4593
PubChem
4593
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Cell membrane
  • Congenital myasthenic syndrome
  • Developmental protein
  • Differentiation
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Immunoglobulin domain
  • Magnesium
  • Metal-binding
  • Muscle protein
  • Phosphoprotein
  • Postsynaptic cell membrane
  • Proteomics identification
  • Receptor
  • Reference proteome
  • Repeat
  • Signal
  • Synapse
  • Transmembrane helix
  • Tyrosine-protein kinase
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
O15146
  • Muscle-specific tyrosine-protein kinase receptor
A0A087WSY1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
kinase
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0110670 congenital myasthenic syndrome 9
DOID:0111377 fetal akinesia deformation sequence syndrome 1
DOID:437 myasthenia gravis

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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