DISEASES

Disease-gene associations mined from literature

Literature associating ASAH1 and adult spinal muscular atrophy

ASAH1 [ENSP00000371152]

Acid ceramidase subunit alpha; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation . Has a higher catalytic efficiency towards C12-ceramides versus other ceramides . Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine . For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro- phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used . Has also an N- acylethanolamine hydrolase activity . By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes . Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis . ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:11451951, ECO:0000269|PubMed:12764132, ECO:0000269|PubMed:12815059, ECO:0000269|PubMed:15655246, ECO:0000269|PubMed:17713573, ECO:0000269|PubMed:22261821, ECO:0000269|PubMed:7744740,

Synonyms:  ASAH1,  ASAH1p,  hASAH1,  A0A1B0GTA6,  A0A1B0GTD4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM