growth differentiation factor 6

Summary
Gene Symbol
  • GDF6
Organism
Homo sapiens (human)
NCBI Gene
392255
PubChem
392255
Alliance of Genome Resources
Annotation
Keyword
  • Apoptosis
  • Chromosomal rearrangement
  • Cleavage on pair of basic residues
  • Cytokine
  • Developmental protein
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Glycoprotein
  • Growth factor
  • Leber congenital amaurosis
  • Microphthalmia
  • Non-syndromic deafness
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A0S2A5D6
Q6KF10
  • Bone morphogenetic protein 13
  • Growth/differentiation factor 16
Gene Ontology (GO)
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
extracellular space
OrthoDB (Group)
Group level
Eukaryota
Group Name
Bone morphogenetic protein
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 7 entries
DO ID Disease Name Source
DOID:0060836 isolated microphthalmia 4
DOID:0080589 Klippel-Feil syndrome 1
DOID:0081320 multiple synostoses syndrome 4
DOID:0110217 Leber congenital amaurosis 17
DOID:10629 microphthalmia
DOID:674 cleft palate
DOID:9296 cleft lip

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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