ASAH1 Chromosome 8
N-acylsphingosine amidohydrolase 1
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What This Gene Does
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. [provided by RefSeq, Oct 2015]
Associated Conditions (13)
Farber lipogranulomatosis
Inborn genetic diseases
Self-limited epilepsy with centrotemporal spikes
ASAH1-related disorders
Lung cancer
ASAH1-related sphingolipidosis
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Abnormality of the nervous system
Uveal melanoma
Ovarian serous cystadenocarcinoma
Abnormality of metabolism/homeostasis
Key Variants
RS1267356970
Conflicting classifications of pathogenicity
Health Risk
RS1354060089
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Farber lipogranulomatosis
Health Risk
RS138662754
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Farber lipogranulomatosis
Health Risk
RS138920776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141068211
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Self-limited epilepsy with centrotemporal spikes, Inborn genetic diseases
Health Risk
RS141785977
Conflicting classifications of pathogenicity
Lung cancer, Lung cancer
Health Risk
RS147233112
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, ASAH1-related disorders, Farber lipogranulomatosis
Health Risk
RS147896487
Conflicting classifications of pathogenicity
Self-limited epilepsy with centrotemporal spikes, ASAH1-related sphingolipidosis, Self-limited epilepsy with centrotemporal spikes
Health Risk
RS1588974098
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Farber lipogranulomatosis
Health Risk
RS1588980220
Conflicting classifications of pathogenicity
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
Health Risk
RS1799692515
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Farber lipogranulomatosis
Health Risk
RS1799735312
Conflicting classifications of pathogenicity
Farber lipogranulomatosis, Farber lipogranulomatosis
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397509415 | Health Risk | Pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS747457090 | Health Risk | Pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS756041561 | Health Risk | Pathogenic | — |
| RS759037498 | Health Risk | Pathogenic | — |
| RS761372687 | Health Risk | Pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS766395283 | Health Risk | Pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis |
| RS768342020 | Health Risk | Pathogenic | — |
| RS771718522 | Health Risk | Pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS771847002 | Health Risk | Pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| RS794729663 | Health Risk | Pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| RS886039750 | Health Risk | Pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| RS137853595 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS145873635 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, ASAH1-related disorders, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| RS1588973237 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS1588982399 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS369707059 | Health Risk | Pathogenic/Likely pathogenic | ASAH1-related disorders, ASAH1-related disorders |
| RS371666412 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis, ASAH1-related disorders |
| RS543697946 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Abnormality of metabolism/homeostasis, Farber lipogranulomatosis |
| RS756455049 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS763842677 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Farber lipogranulomatosis |
| RS767864356 | Health Risk | Pathogenic/Likely pathogenic | Farber lipogranulomatosis, Inborn genetic diseases, Farber lipogranulomatosis |
| RS769683272 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis, ASAH1-related disorders |
| RS966267709 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |