ACER3 Chromosome 11
Alkaline ceramidase 3
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What This Gene Does
Enables N-acylsphingosine amidohydrolase activity; calcium ion binding activity; and zinc ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and metabolic dysfunction-associated steatohepatitis. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Alkaline ceramidases
Locus Type
gene with protein product
Location
11q13.5
Ensembl
ENSG00000078124
Associated Conditions (3)
Alkaline ceramidase 3 deficiency
ACER3-related disorder
Familial cancer of breast
Key Variants
RS782329790
Likely pathogenic
Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
Health Risk
RS1440353274
Pathogenic
ACER3-related disorder, Familial cancer of breast, ACER3-related disorder
Health Risk
RS1949342923
Pathogenic
Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
Health Risk
RS782673196
Pathogenic
Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
Health Risk
RS782709009
Pathogenic
Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782329790 | Health Risk | Likely pathogenic | Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency |
| RS1440353274 | Health Risk | Pathogenic | ACER3-related disorder, Familial cancer of breast, ACER3-related disorder |
| RS1949342923 | Health Risk | Pathogenic | Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency |
| RS782673196 | Health Risk | Pathogenic | Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency |
| RS782709009 | Health Risk | Pathogenic | Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency |