Most carriers of the disease-causing mutation in the COPA gene develop COPA syndrome, which causes severe symptoms such as:
Others with this COPA mutation remain healthy and symptom-free due to a protective variant of the STING gene, known as HAQ-STING.
Interstitial lung disease
Kidney disease
Arthritis
Inflammation and autoantibodies
COPA
UCSF
Created on February 26, 2025
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Transcript
Most carriers of the disease-causing mutation in the COPA gene develop COPA syndrome, which causes severe symptoms such as:
Others with this COPA mutation remain healthy and symptom-free due to a protective variant of the STING gene, known as HAQ-STING.
Interstitial lung disease
Kidney disease
Arthritis
Inflammation and autoantibodies