ECI2

Chr 6

enoyl-CoA delta isomerase 2

Also known as: ACBD2, DRS-1, DRS1, HCA88, PECI, dJ1013A10.3

NCBI Gene: 10455 ENSG00000198721 UniProt: O75521 OMIM: 608024

The protein is a mitochondrial enzyme that catalyzes the isomerization of 3-cis and 3-trans enoyl-CoA esters to 2-trans intermediates during beta-oxidation of unsaturated fatty acids. Biallelic mutations cause a rare autosomal recessive disorder characterized by early-onset developmental delay, seizures, and metabolic abnormalities. The gene shows relatively low constraint to loss-of-function variation, consistent with recessive inheritance requiring biallelic pathogenic variants.

OMIM ResearchSummary from RefSeq, UniProt

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, Aug 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.23

LOEUF

Mechanism· predicted