collagen type VI alpha 1 chain

Summary
Gene Symbol
  • COL6A1
Organism
Homo sapiens (human)
External Links
NCBI Gene
1291
PubChem
1291
Alliance of Genome Resources
Annotation
Keyword
  • Cell adhesion
  • Collagen
  • Congenital muscular dystrophy
  • Direct protein sequencing
  • Disease variant
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384P5H7
P12109
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050557 congenital muscular dystrophy
DOID:0050558 Ullrich congenital muscular dystrophy
DOID:0050663 Bethlem myopathy
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