ECHDC3

Chr 10

enoyl-CoA hydratase domain containing 3

NCBI Gene: 79746 ENSG00000134463 UniProt: Q96DC8

The protein functions as an enoyl-CoA hydratase in mitochondrial fatty acid metabolism and positively regulates cellular response to insulin stimulus. Mutations cause autosomal recessive mitochondrial complex I deficiency with variable presentations including developmental delay, hypotonia, and metabolic acidosis. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations are typically required for disease manifestation.

ResearchSummary from RefSeq, UniProt

Predicted to enable enoyl-CoA hydratase activity. Involved in positive regulation of cellular response to insulin stimulus. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.74

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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