AKNA

AT-hook transcription factor

Ensembl:
ENSG00000106948
UniProt:
Q7Z591
OMIM:
605729
Synonyms:
KIAA1968

Cilia effects upon perturbation of AKNA

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

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Transcription regulation

Function

Mutations in the AKNA gene cause Primary Ciliary Dyskinesia (PMID: 32367404).

Model organism evidence

Mus musculus (1 reference)

The clinical symptoms were similar to primary ciliary dyskinesia (PCD).

PMIDs: 31357536