ECHDC1 Chromosome 6
Ethylmalonyl-CoA decarboxylase 1
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What This Gene Does
Predicted to enable carboxy-lyase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Deficiency of butyryl-CoA dehydrogenase
Key Variants
RS1783424526
Likely pathogenic
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS368710940
Likely pathogenic
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS770887258
Likely pathogenic
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1783424526 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS368710940 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS770887258 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |