collagen type IV alpha 4 chain

Summary
Gene Symbol
  • COL4A4
Organism
Homo sapiens (human)
NCBI Gene
1286
PubChem
1286
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alport syndrome
  • Basement membrane
  • Collagen
  • Deafness
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Hydroxylation
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P53420
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
collagen
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0110033 autosomal recessive Alport syndrome
DOID:0111365 benign familial hematuria
DOID:10983 Alport syndrome
DOID:423 myopathy
DOID:783 end stage renal disease
DOID:854 collagen disease

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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