ALDH3A2

aldehyde dehydrogenase 3 family member A2

Ensembl:
ENSG00000072210
UniProt:
P51648
OMIM:
609523
Synonyms:
ALDH10, FALDH, SLS

Cilia effects upon perturbation of ALDH3A2

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • 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
  • Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-3.14) PMID:20393562

Phenotypes

Mouse phenotype:
decreased circulating alkaline phosphatase level; abnormal behavior; increased startle reflex; decreased prepulse inhibition; decreased locomotor activity

Ciliopathy associations

  • Sjögren-Larsson Syndrome

Subcellular localization

cilia associated gene, cytosol, endoplasmic reticulum

Function

Sjögren-Larsson syndrome is caused by a mutation in the ALDH3A2 gene, which produces fatty aldehyde dehydrogenase (FALDH). FALDH is a membrane-bound protein involved in fatty oxidation. Structural disturbance and poor metabolite clearance likely contribute to pathogenesis(PMID: 40736838).