ACSF3 Chromosome 16
Acyl-CoA synthetase family member 3
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What This Gene Does
This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Acyl-CoA synthetase family
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000176715
Associated Conditions (5)
Combined malonic and methylmalonic acidemia
Methylmalonic acidemia
Inborn genetic diseases
ACSF3-related disorder
Sarcoma
Key Variants
RS1378197369
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS138680796
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Methylmalonic acidemia, Inborn genetic diseases
Health Risk
RS140328142
Conflicting classifications of pathogenicity
Methylmalonic acidemia, Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS140986055
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS142092069
Conflicting classifications of pathogenicity
Methylmalonic acidemia, Combined malonic and methylmalonic acidemia, Inborn genetic diseases
Health Risk
RS144411003
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Inborn genetic diseases, Combined malonic and methylmalonic acidemia
Health Risk
RS144681140
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, ACSF3-related disorder, Inborn genetic diseases
Health Risk
RS145285434
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS145470870
Conflicting classifications of pathogenicity
Methylmalonic acidemia, Combined malonic and methylmalonic acidemia, Inborn genetic diseases
Health Risk
RS147538370
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS1567745645
Conflicting classifications of pathogenicity
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
Health Risk
RS184912682
Conflicting classifications of pathogenicity
Methylmalonic acidemia, ACSF3-related disorder, Methylmalonic acidemia
Health Risk
All Variants (172)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543916866 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS570233664 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS745684193 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS746877433 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS748382994 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS749538361 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS751342087 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS752338222 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS757905943 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS758740850 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS759338401 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS760759040 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS764608253 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS766764090 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS767946490 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Inborn genetic diseases, Combined malonic and methylmalonic acidemia |
| RS770400253 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS771558691 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS772073893 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS775569136 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS775794698 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS776995095 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS779820462 | Health Risk | Pathogenic/Likely pathogenic | Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |