| Entrez Gene ID | 56624 |
|---|---|
| Official Gene Symbol | ASAH2 (GeneCards) |
| Full name | N-acylsphingosine amidohydrolase 2 |
| Location | 10q11.23 |
| Other ids | Vega : OTTHUMG00000018223 MIM : 611202 HGNC : HGNC:18860 Ensembl : ENSG00000188611 |
| Other names | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14917 | 56624 | ASAH2 | 10 | 52003840 | 52003840 | Xeroderma Pigmentosum | HiSeq X Ten |