PQBP1
polyglutamine binding protein 1
Normal Function
Health Conditions Related to Genetic Changes
Renpenning syndrome
At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 gene mutations that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
More About This Health ConditionRelated Conditions
Renpenning syndromeColoboma
Health Conditions Related to Genetic Changes
At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 gene mutations that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
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