ELOVL1 est un gène codé par le symbole ELOVL1. D'autres noms incluent: Elongation of very long chain fatty acids protein 1; 3-keto acyl-CoA synthase ELOVL fatty acid elongase 1; ELOVL FA elongase 1; Very long chain 3-ketoacyl-CoA synthase 1; Very long chain 3-oxoacyl-CoA synthase 1; SSC1. ELOVL1 a une masse de 32.66kDa, une longueur d'acide aminé de 279, et est impliqué dans Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.
Nous proposons 8 des anticorps contre ELOVL1, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et IP avec des échantillons dérivés de Humain, Souris, Rat et Singe.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs.
Spécificité tissulaire
Ubiquitous.
Implication dans la maladie
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies: An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features.
Similitudes de séquence
Belongs to the ELO family. ELOVL1 subfamily.
Localisation cellulaire
Endoplasmic reticulum membrane.
