Identity
HGNC
LOCATION
8p22
LOCUSID
ALIAS
AC,ACDase,ASAH,PHP,PHP32,SMAPME
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 427
MIM: 613468
HGNC: 735
Ensembl: ENSG00000104763
Variants:
dbSNP: 427
ClinVar: 427
TCGA: ENSG00000104763
COSMIC: ASAH1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36830643 | 2023 | Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. | 3 |
| 36830643 | 2023 | Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. | 3 |
| 32569620 | 2021 | The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology. | 0 |
| 33766731 | 2021 | N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production. | 5 |
| 34102611 | 2021 | Acid ceramidase promotes senescent cell survival. | 7 |
| 32569620 | 2021 | The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology. | 0 |
| 33766731 | 2021 | N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production. | 5 |
| 34102611 | 2021 | Acid ceramidase promotes senescent cell survival. | 7 |
| 32111095 | 2020 | Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. | 5 |
| 32449975 | 2020 | ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. | 5 |
| 32627310 | 2020 | Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. | 3 |
| 32706452 | 2020 | Farber disease in a patient from China. | 2 |
| 32875576 | 2020 | ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. | 3 |
| 33334013 | 2020 | Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer. | 8 |
| 32111095 | 2020 | Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. | 5 |
Citation
Dessen P
ASAH1 (N-acylsphingosine amidohydrolase 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50162/asah1
