These include BRI2, which is related to familial British and Danish dementia (FBD and FDD); Chondromodulin-I, related to chondrosarcoma; CA11, related to stomach cancer; and surfactant protein C (SP-C), related to respiratory distress syndrome (RDS).
It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of the same gene causes the similar syndrome of familial Danish dementia.
ITM2B |