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uba1
- The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets ...
- ... 000 people. Variants (also called mutations) in the UBA1 gene cause VEXAS syndrome. The UBA1 gene provides instructions for making a protein called ... that cells need to function and survive. The UBA1 gene variants that cause VEXAS syndrome are acquired ...
- ... condition; its prevalence is unknown. Mutations in the UBA1 gene cause X-linked infantile spinal muscular atrophy. The UBA1 gene provides instructions for making the ubiquitin-activating ...
- NIH Researchers Discover a New Inflammatory Disease Called VEXAS (National Institute of Arthritis and Musculoskeletal and Skin Diseases)Autoimmune Diseases/Statistics and Research ... Autoimmune Diseases ... Genetic Disorders/Statistics and Research ... Genetic Disorders ... National Institute of Arthritis ...
- Arthritis and Rheumatic Diseases (National Institute of Arthritis and Musculoskeletal and Skin Diseases)Learn about 20+ different arthritic diseases (affecting the joints) & rheumatic diseases (usually affecting joints, tendons, ligaments, bones, &muscles). ... Arthritis/ ...
- Spinal Muscular Atrophy (National Institute of Neurological Disorders and Stroke)Spinal Muscular Atrophy/Start Here ... Spinal Muscular Atrophy ... Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and kill ...
- Understanding Autoimmune Diseases: When Your Body Turns Against You (National Institutes of Health)Autoimmune Diseases/Start Here ... Autoimmune Diseases ... National Institutes of Health ... From the National Institutes of Health ... Symptoms of an autoimmune disease ...