RBPJ
recombination signal binding protein for immunoglobulin kappa J region
Normal Function
Health Conditions Related to Genetic Changes
Adams-Oliver syndrome
Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations change single protein building blocks in the RBP-J protein, altering the region of the protein that normally binds to DNA. The altered proteins are unable to bind to DNA, preventing the activation of particular genes. These changes in gene activity impair the proper development of the skin on the top of the head and the bones in the hands and feet. It is unclear why impaired development primarily affects these tissues.
More About This Health ConditionRelated Conditions
Adams-Oliver syndromeRheumatoid arthritis
Health Conditions Related to Genetic Changes
Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations change single protein building blocks in the RBP-J protein, altering the region of the protein that normally binds to DNA. The altered proteins are unable to bind to DNA, preventing the activation of particular genes. These changes in gene activity impair the proper development of the skin on the top of the head and the bones in the hands and feet. It is unclear why impaired development primarily affects these tissues.
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