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ASAH1

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Hofbauer cells, Cardiomyocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (ASC diff, SK-MEL-30)

Interaction

Heterodimer; disulfide-linked (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). The heterodimer is composed of the disulfide-linked alpha and beta chains produced by autocatalytic cleavage of the precursor (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). Isoform 2: May interact with NR5A1 in the nucleus; the direct interaction would negatively regulate NR5A1 transcriptional activity (Probable).

Molecular function

Hydrolase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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