rs11547019

This variant is located in the ACSF3 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ethylmalonate measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.29

p 8.0e-19

N 4,911

Large GWAS

European

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter2 publications

Combined malonic and methylmalonic acidemia

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About ACSF3

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]

View all ACSF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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