ECHDC1

Chr 6

ethylmalonyl-CoA decarboxylase 1

Also known as: HEL-S-76, MMCD, dJ351K20.2

NCBI Gene: 55862 ENSG00000093144 UniProt: Q9NTX5 OMIM: 612136

The protein decarboxylates ethylmalonyl-CoA to butyryl-CoA and functions as a metabolite proofreading enzyme in fatty acid metabolism. Mutations cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a rare autosomal recessive disorder presenting with developmental delay, hypotonia, and metabolic acidosis in infancy. The gene shows tolerance to loss-of-function variation (low constraint), which is consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable carboxy-lyase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.52

LOEUF

Mechanism· predicted