ECI2
Description
The ECI2 (enoyl-CoA delta isomerase 2) is a protein-coding gene located on chromosome 6.
ECI2 is capable of transforming both 3-cis and 3-trans double bonds into the 2-trans configuration within a variety of enoyl-CoA molecules. It exhibits a particular preference for substrates containing a 3-trans double bond.
ECI2 is also known as ACBD2, DRS-1, DRS1, HCA88, PECI, dJ1013A10.3.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- substance abuse
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- pachyonychia congenita
