ASAH1


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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.
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References in periodicals archive ?
Pini et al., "Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1," Epilepsia, vol.
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).
MORC2 Spinal muscular Childhood Proximal muscle ASAH1 atrophy with (initial weakness, hypotonia, progressive development areflexia, and muscle myoclonic normal) wasting.