ELOVL4 est un gène codé par le symbole ELOVL4. D'autres noms incluent: Elongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4. ELOVL4 a une masse de 36.83kDa, une longueur d'acide aminé de 314, et est impliqué dans les maladies: Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation; Spinocerebellar ataxia 34.
Nous proposons 14 des anticorps contre ELOVL4, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris, Rat, Singe et Félin.
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. 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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.
Résumé Entrez
This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration.
Spécificité tissulaire
Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.
Implication dans la maladie
Stargardt disease 3: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Ichthyosis, spastic quadriplegia, and mental retardation: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.
Spinocerebellar ataxia 34: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis.
Similitudes de séquence
Belongs to the ELO family. ELOVL4 subfamily.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Endoplasmic reticulum membrane.
