ELOVL1 è un gene codificato dal simbolo ELOVL1. Altri nomi includono: 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 ha una massa di 32.66kDa, una lunghezza di amminoacidi di 279, ed è implicato in Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.
Offriamo 8 anticorpi contro ELOVL1, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo 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.
Specificità del tessuto
Ubiquitous.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the ELO family. ELOVL1 subfamily.
Posizione cellulare
Endoplasmic reticulum membrane.
