ELOVL3
Description
The ELOVL3 (ELOVL fatty acid elongase 3) is a protein-coding gene located on chromosome 10.
ELOVL3 catalyzes the initial and rate-limiting step in the four-step elongation cycle of long-chain fatty acids. This enzymatic process, which occurs within the endoplasmic reticulum, enables the addition of two carbon units to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. As a condensing enzyme, ELOVL3 exhibits activity towards both saturated and unsaturated acyl-CoA substrates, with a preference for C18 acyl-CoAs, particularly C18:0 acyl-CoAs. It is involved in the production of saturated and monounsaturated VLCFAs of varying chain lengths that serve as precursors for membrane lipids and lipid mediators.
ELOVL3 is also known as CIG-30, CIG30.
Associated Diseases
- Griscelli syndrome type 3
- hypotrichosis simplex
- Olmsted syndrome 1
- Clouston syndrome
- oculocutaneous albinism type 3
- erythrokeratodermia variabilis
- autosomal dominant hypohidrotic ectodermal dysplasia
- Graham Little-Piccardi-Lassueur syndrome
- uncombable hair syndrome
- Tietz syndrome
- autosomal recessive hypohidrotic ectodermal dysplasia
- Waardenburg syndrome, IIa 2F
- piebald trait-neurologic defects syndrome
