ELOVL1 ist ein Gen, das durch das Symbol ELOVL1 kodiert wird. Andere Namen sind: 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 hat eine Masse von 32.66kDa, eine Aminosäurelänge von 279, und ist an Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies beteiligt.
Wir bieten 8 antikörper gegen ELOVL1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human, Maus, Ratte und Affe.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Gewebespezifität
Ubiquitous.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the ELO family. ELOVL1 subfamily.
Zellort
Endoplasmic reticulum membrane.
