ELOVL4 ist ein Gen, das durch das Symbol ELOVL4 kodiert wird. Andere Namen sind: 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 hat eine Masse von 36.83kDa, eine Aminosäurelänge von 314, und ist an folgenden Krankheiten beteiligt: Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation; Spinocerebellar ataxia 34.
Wir bieten 4 antikörper gegen ELOVL4, aufgewachsen in Kaninchen, welche geeignet sind für WB, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
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. 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.
Entrez Zusammenfassung
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.
Gewebespezifität
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the ELO family. ELOVL4 subfamily.
Posttranslationale Modifikation
N-glycosylated.
Zellort
Endoplasmic reticulum membrane.
