功能Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
疾病相关Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. 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 cases leading to familial forms.
序列相似性Belongs to the Cu-Zn superoxide dismutase family.
翻译后修饰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. The ditryptophan cross-link at Trp-33 is reponsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
细胞定位Cytoplasm. The pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.
ICC/IF image of ab45777 stained human HeLa cells. The cells were methanol fixed (5 min), permabilised in TBS-T (20 min) and incubated with the antibody (ab45777, 1µg/ml) for 1h at room temperature. 1%BSA / 10% normal serum / 0.3M glycine was used to quench autofluorescence and block non-specific protein-protein interactions. The secondary antibody (green) was Alexa Fluor® 488 goat anti-rabbit IgG (H+L) used at a 1/1000 dilution for 1h. Alexa Fluor® 594 WGA was used to label plasma membranes (red). DAPI was used to stain the cell nuclei (blue).
Western blot - Superoxide Dismutase 1 antibody (ab45777)This image is courtesy of an Abreview submitted by Dr Lay Harn Gam
All lanes : Anti-Superoxide Dismutase 1 antibody (ab45777) at 1/1000 dilution
Lane 1 : Whole tissue lysate prepared from human breast cancer tissue Lane 2 : Whole tissue lysate prepared from human breast cancer tissue
Lysates/proteins at 8 µg per lane.
Secondary HRP conjugated goat polyclonal to rabbit IgG at 1/1000 dilution
Performed under reducing conditions.
Predicted band size : 16 kDa
Exposure time : 15 minutes
This image is courtesy of an Abreview submitted by Dr Lay Harn Gam
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) - Anti-Superoxide Dismutase 1 antibody (ab45777)This image is courtesy of an abreview submitted by Antibody Solutions Ltd.
ab45777 (1/2000) staining SOD1 in paraffin-embedded human breast carcinoma sections. Tissues underwent formaldehyde fixation, heat-mediated antigen retrieval and peroxidase-blocking. Secondary antibody was a goat anti-rabbit IgG conjugated to HRP. For further experimental details please refer to Abreview.