ACER2

Chr 9

alkaline ceramidase 2

Also known as: ALKCDase2, ASAH3L

NCBI Gene: 340485 ENSG00000177076 UniProt: Q5QJU3

The ACER2 protein is a Golgi ceramidase that hydrolyzes ceramides into sphingosine and fatty acids, regulating the balance of bioactive sphingolipids that control cell proliferation, apoptosis, and autophagy. Mutations cause progressive leukodystrophy, which follows autosomal recessive inheritance and typically presents in early childhood with developmental regression and neurological deterioration. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.695), consistent with recessive disease where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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