rs13815

This is a protein-altering variant in the MCAT gene.

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GWAS Catalog Trait Associations (2)

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

mitochondrial heteroplasmy measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)

Allele G

OR 0.07

p 3.0e-46

N 68,500

Large GWAS

multi-ancestry

mitochondrial DNA measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)

Allele G

OR 0.05

p 5.0e-37

N 163,372

Large GWAS

multi-ancestry

About MCAT

The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]

View all MCAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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