rs1242355414
This variant is located in the ECHS1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout ECHS1
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]
View all ECHS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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