rs749661738

This variant is located in the ACSF3 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Combined malonic and methylmalonic acidemia; Inborn genetic diseases

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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