ASAH1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ASAH1 (HGNC:735) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
N-acylsphingosine amidohydrolase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ASAH
Alias symbols
AC, PHP32, FLJ21558, ACDase
%HI
65.81(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.44(Read more about gnomAD LOEUF score)
Cytoband
8p22
Genomic Coordinates
GRCh37/hg19: chr8:17913501-17942470 NCBI Ensembl UCSC
GRCh38/hg38: chr8:18055992-18084961 NCBI Ensembl UCSC
MANE Select Transcript
NM_177924.5 ENST00000637790.2 (Read more about MANE Select)
Function
Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1200
ClinGen Curation ID:
CCID:006696
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/12/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic variants in ASAH1 have been associated with both Farber lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy per OMIM.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)