matrilin 3

Summary
Gene Symbol
  • MATN3
Organism
Homo sapiens (human)
NCBI Gene
4148
PubChem
4148
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Coiled coil
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • EGF-like domain
  • Methylation
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
O15232
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
matrilin
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0070299 multiple epiphyseal dysplasia 5
DOID:14323 Marfan syndrome
DOID:2256 osteochondrodysplasia
DOID:8398 osteoarthritis

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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