ELOVL6
Description
The ELOVL6 (ELOVL fatty acid elongase 6) is a protein-coding gene located on chromosome 4.
ELOVL6 catalyzes the initial and rate-limiting step in the four-reaction long-chain fatty acid elongation cycle. This process, which takes place in the endoplasmic reticulum, involves the addition of two carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. ELOVL6 is a condensing enzyme that elongates fatty acids with 12, 14, and 16 carbons, exhibiting greater activity towards C16:0 acyl-CoAs. It facilitates the synthesis of unsaturated C16 long-chain fatty acids, and to a lesser extent, C18:0 and those with a low degree of desaturation. ELOVL6 is thought to play a role in the production of saturated and monounsaturated VLCFAs of varying chain lengths, which serve as precursors for membrane lipids and lipid mediators.
ELOVL6 is also known as FACE, FAE, LCE, hELO2.
Associated Diseases
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- glycogen storage disease VI
- dermatitis
- alpha thalassemia-intellectual disability syndrome type 1
- CIDEC-related familial partial lipodystrophy
- hemoglobin D disease
- Heinz body anemia
- IRIDA syndrome
