MCAT Chromosome 22

Malonyl-CoA-acyl carrier protein transacylase

2 variants 2 Health Risk

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What This Gene Does

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]

Associated Conditions (2)

Optic atrophy 15

Acute myeloid leukemia

Key Variants

RS2518100359

Pathogenic

Optic atrophy 15, Optic atrophy 15

Health Risk

RS2518107452

Pathogenic

Optic atrophy 15, Acute myeloid leukemia, Optic atrophy 15

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2518100359	Health Risk	Pathogenic	Optic atrophy 15, Optic atrophy 15
RS2518107452	Health Risk	Pathogenic	Optic atrophy 15, Acute myeloid leukemia, Optic atrophy 15