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ASAH2 N-acylsphingosine amidohydrolase 2

Gene ID: 56624, updated on 2-Nov-2024
Gene type: protein coding
Also known as: HNAC1; BCDase; LCDase; NCDase; N-CDase

Summary

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

Associated conditions

DescriptionTests
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available

Genomic context

Location:
10q11.23
Sequence:
Chromosome: 10; NC_000010.11 (50184861..50251516, complement)
Total number of exons:
21

Links

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