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Results 1 - 3 of 3 for uba1
  1. UBA1 gene 
    The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  2. VEXAS syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  3. X-linked infantile spinal muscular atrophy 
    ... 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 ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics