ASAH1

(redirected from ASAH)
Also found in: Acronyms.

ASAH1

A gene on chromosome 8p22 that encodes a heterodimeric enzyme that is cleaved into an active form post-translationally, and which catalyses the synthesis and degradation of ceramide into sphingosine and fatty acid.

Molecular pathology
ASAH1 mutations are linked to Farber disease, a lysosomal storage disorder.
Mentioned in ?
References in periodicals archive ?
After ASAH is excluded, a patient's SBP parameters are relaxed, allowing the patient's SBP to return to baseline.
These studies evaluated differences in outcome and prognosis in patients with ASAHs, versus NASAHs, particularly those with the perimesencephalic pattern of hemorrhage.