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MCAT

Chr 22q13.2

malonyl-CoA-acyl carrier protein transacylase

Aliases:
MT, MCT, fabD, FASN2C, NET62
MANE:
ENST00000290429.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Optic neuropathy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • optic atrophy 15

    0.42
  • Autosomal recessive isolated optic atrophy

    0.37
  • hereditary optic neuropathy

    0.19
  • prostate carcinoma

    0.18
  • Retinal dystrophy

    0.17
  • Alzheimer disease

    0.09
  • infectious otitis media

    0.08
  • neoplasm

    0.08
  • amyotrophic lateral sclerosis

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Malonyl-CoA-acyl carrier protein transacylase, mitochondrial

Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1) (PubMed:12882974, PubMed:19549604). This suggests the existence of the biosynthesis of fatty acids in mitochondria (PubMed:12882974). Also acts as a mitochondrial small ribosomal subunit (mt-SSU) assembly factor (PubMed:36482135)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.