ATP7BMutation

ATP7BMutation is a genetic mutation that occurs in the ATP7B gene, which is located on chromosome 15q26.1. The ATP7B gene encodes a protein called ATP7B, which is a member of the P-type ATPase family. This protein is involved in the transport of copper across cellular membranes, playing a crucial role in copper homeostasis and detoxification.

Mutations in the ATP7B gene can lead to various clinical manifestations, primarily affecting copper metabolism. The most well-known condition associated with ATP7B mutations is Menkes disease, a rare genetic disorder characterized by severe copper deficiency, leading to neurological symptoms, growth failure, and distinctive facial features. Other conditions associated with ATP7B mutations include Wilson disease, which is characterized by copper accumulation in the liver and brain, and aceruloplasminemia, a rare disorder of copper transport.

ATP7BMutation can be inherited in an autosomal recessive manner, meaning that both copies of the ATP7B gene must be mutated for the condition to be expressed. The diagnosis of ATP7BMutation typically involves genetic testing, which can identify specific mutations in the ATP7B gene. Treatment for conditions associated with ATP7BMutation often focuses on managing copper levels through dietary modifications, chelation therapy, and, in some cases, liver transplantation for Wilson disease.