Superoxide Dismutase 1 è un gene codificato dal simbolo SOD1. È noto anche come: Superoxide dismutase [Cu-Zn]; hSod1; SOD1. Superoxide Dismutase 1 ha una massa di 15.94kDa, una lunghezza di amminoacidi di 154, ed è implicato nella malattia: Amyotrophic lateral sclerosis 1; Spastic tetraplegia and axial hypotonia, progressive.
Offriamo 42 anticorpi contro Superoxide Dismutase 1, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso, IP e Dot con campioni derivati da Umano, Topo, Ratto, Bovino, Maiale, Coniglio, Scimmia, Pecora, Cane, Criceto e Xenopus.
Informazioni su geni e proteine
Riepilogo UniProt
Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
Sommario di Entrez
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene.
Coinvolgimento nella malattia
Amyotrophic lateral sclerosis 1: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Spastic tetraplegia and axial hypotonia, progressive: An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected.
Somiglianze di sequenza
Belongs to the Cu-Zn superoxide dismutase family.
Modifica post-translazionale
Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.
Posizione cellulare
Cytoplasm. Mitochondrion. Nucleus.
Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.
