KDM6A

lysine demethylase 6A

Ensembl:
ENSG00000147050
UniProt:
O15550
OMIM:
300128
Synonyms:
UTX

Cilia effects upon perturbation of KDM6A

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.42) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Holoprosencephaly

Subcellular localization

nucleoli, nucleoli rim, nucleoplasm

Functional category

  • Metabolism

Function

Mutations in KDM6A cause Holoprosencephaly (PMID: 31846209).