UBA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Autoinflammatory disorders

  Other

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary neuropathy or pain disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Paediatric motor neuronopathies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Primary immunodeficiency or monogenic inflammatory bowel disease

  Other

• Adult onset neurodegenerative disorder

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• infantile-onset X-linked spinal muscular atrophy

  0.75

• VEXAS syndrome

  0.74

• X-linked distal arthrogryposis multiplex congenita

  0.72

• hereditary disease

  0.42

• neurodegenerative disease

  0.37

• dengue disease

  0.37

• autoimmune disorder of central nervous system

  0.37

• Alzheimer disease

  0.29

• Parkinson disease

  0.28

• multiple sclerosis

  0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)