GDF6

growth differentiation factor 6

Ensembl:
ENSG00000156466
UniProt:
Q6KF10
OMIM:
601147
Synonyms:
BMP13, KFS, KFS1, SGM1

Cilia effects upon perturbation of GDF6

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal spleen morphology, abnormal thymus morphology, enlarged spleen, abnormal optic disk morphology, preweaning lethality, complete penetrance, increased lung tissue damping, abnormal digit morphology, enlarged thymus, no spontaneous movement
Mouse ciliopathy phenotype:
abnormal reti blood vessel morphology, abnormal reti morphology, abnormal brain morphology, hydrocephaly
Human ciliopathy phenotype:
isolated microphthalmia 4; Leber congenital amaurosis 17; Isolated anophthalmia - microphthalmia; microphthalmia, isolated, with coloboma; microphthalmia

Ciliopathy associations

  • Leber Congenital Amaurosis

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • ECM & connective tissue

Function

Zebrafish Gdf6 plays a role in later eye development, notably that gdf6 mR is expressed in the proliferative ciliary margi l zone with apoptotic cell death observed in mutants ( 23307924).