APTX

aprataxin

Ensembl:
ENSG00000137074
UniProt:
Q7Z2E3
OMIM:
606350
Synonyms:
AOA, AOA1, AXA1, EAOH, EOAHA

Cilia effects upon perturbation of APTX

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • 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]: Hyper-ciliogenesis (robust z=2.23, ciliated=54.7%) PMID:26595381

Phenotypes

Mouse phenotype:
decreased bone mineral content; decreased bone mineral density
Mouse ciliopathy phenotype:
persistence of hyaloid vascular system; cataract; increased circulating alanine transaminase level
Human ciliopathy phenotype:
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia - oculomotor apraxia type 1

Subcellular localization

nucleoli, nucleoplasm

Function

Mutations in APTX cause Ataxia-telangiectasia-like Disorder (PMID: 16131425; 16518257).