rs201346166

This variant is located in the ECI1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ECI1

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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