ECHS1 Chromosome 10

Enoyl-CoA hydratase, short chain 1

72 variants 72 Health Risk

Upload your DNA to see your personal genotypes for variants in ECHS1.

What This Gene Does

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

MicroRNA protein coding host genes

Locus Type

gene with protein product

Location

10q26.3

Ensembl

ENSG00000127884

Associated Conditions (9)

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

ECHS1-related disorder

Inborn genetic diseases

Leigh syndrome

See cases

Thymoma

Thyroid cancer

nonmedullary

Key Variants

RS1085307550

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS1276839756

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS140262395

Conflicting classifications of pathogenicity

Health Risk

RS140410716

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS142639185

Conflicting classifications of pathogenicity

Health Risk

RS144800865

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS1478946630

Conflicting classifications of pathogenicity

Health Risk

RS149399503

Conflicting classifications of pathogenicity

Health Risk

RS1554885535

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS1589880497

Conflicting classifications of pathogenicity

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Health Risk

RS181328051

Conflicting classifications of pathogenicity

Health Risk

RS2493842342

Conflicting classifications of pathogenicity

Health Risk

All Variants (72)

RSID	Category	Clinical Significance	Conditions
RS587776498	Health Risk	Pathogenic	Leigh syndrome, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Leigh syndrome
RS751306953	Health Risk	Pathogenic	—
RS753557738	Health Risk	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS755572793	Health Risk	Pathogenic	—
RS765896234	Health Risk	Pathogenic	—
RS769429279	Health Risk	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS786204001	Health Risk	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS786204002	Health Risk	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS864309656	Health Risk	Pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS150321966	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS200584793	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS201865375	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS375032130	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, See cases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS557128093	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS565090080	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS746519257	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, See cases, Leigh syndrome
RS754815893	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Thymoma, Thyroid cancer
RS758723288	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS761464256	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS761989177	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS770931871	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS775650144	Health Risk	Pathogenic/Likely pathogenic	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

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