ACSM3

Chr 16

acyl-CoA synthetase medium chain family member 3

Also known as: SA, SAH

NCBI Gene: 6296 ENSG00000005187 UniProt: Q53FZ2 OMIM: 145505

ACSM3 encodes a mitochondrial enzyme that catalyzes the activation of medium-chain fatty acids by CoA, representing the first step in fatty acid metabolism with particular preference for isobutyrate and other 2-6 carbon fatty acids. The gene is not constrained against loss-of-function variants and currently has no established Mendelian disease associations in pediatric neurology. While implicated in IgA glomerulonephritis and as a biomarker for ulcerative colitis, pathogenic variants causing neurological phenotypes have not been reported.

OMIM ResearchSummary from RefSeq, UniProt

Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.05

LOEUF

Mechanism· predicted