Where is ATP7A found?

The ATP7A gene is located on the long (q) arm of the X chromosome at band Xq21. 1. The encoded ATP7A protein has 1,500 amino acids. At least 12 disease-causing mutations in this gene have been discovered.

What are the symptoms of Menkes disease?

Common symptoms of Menkes disease in infants are:

• Brittle, kinky, steely, sparse, or tangled hair.
• Pudgy, rosy cheeks, sagging facial skin.
• Feeding difficulties.
• Irritability.
• Lack of muscle tone, floppiness.
• Low body temperature.
• Intellectual disability and developmental delay.
• Seizures.

What is Menkes disease and Wilson’s disease?

Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation.

What chromosome is ATP7B on?

Gene. Wilson disease protein is associated with ATP7B gene, approximately 80 Kb, located on human chromosome 13 and consists of 21 exons.

What does the ATP7A gene do?

The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The ATP7A protein is found throughout the body, except in liver cells.

How does someone get Menkes disease?

Menkes syndrome is inherited in an X-linked recessive pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

How do you get Menkes disease?

Causes. Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys.

What is the function of ATP7B?

Normal Function The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP).

What genes cause hemochromatosis?

A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.

What type of mutation causes Wilson’s disease?

Researchers have determined that Wilson disease is caused by disruption or changes (mutations) of the ATP7B gene, which plays an important role in the movement of excess copper from the liver to the bile to eventually be excreted from the body through the intestines.

How long can you live with Menkes disease?

It affects from one in 100,000 people to one in 250,000 people. The life expectancy for those with Menkes is typically less than 10 years, with the majority of children diagnosed with the disease dying within the first three years of life.

Can you survive Menkes disease?

Without treatment, most Menkes disease patients do not survive past age 3. Early diagnosis and treatment can vastly improve a child’s survival and symptoms.

Is Menkes disease fatal?

Menkes disease can lead to severe damage to your child’s nervous system. Children with the disease generally can’t grow and thrive, and the disease is fatal.

What causes high ceruloplasmin levels?

Your ceruloplasmin level can be higher than normal because of pregnancy, estrogen therapy, and birth control pills. Diseases such as leukemia, Hodgkin lymphoma, primary biliary cirrhosis, and rheumatoid arthritis can also cause a higher ceruloplasmin level.

What mutation causes Wilson’s disease?

What part of the body does Wilson disease affect?

Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death.

What are the effects of ATP7A mutations?

The altered proteins that result from ATP7A mutations impair the absorption of copper from food, fail to supply copper to certain enzymes, or get stuck in the cell membrane, unable to shuttle back and forth from the Golgi. As a result of the disrupted activity of the ATP7A protein, copper is poorly distributed to cells in the body.

What are atp7a-related disorders?

The most recently described ATP7A -related disorder is an isolated adult-onset peripheral motor neuron disease. Copper levels in this illness are typically normal as opposed to Menkes disease and OHS, in which they are found to be reduced.

What is the function of ATP7A?

The ATP7A protein is a transmembrane protein and is expressed in the intestine and all tissues except liver. In the intestine, ATP7A regulates Cu (I) absorption in the human body by transporting Cu (I) from the small intestine into the blood.

What is the PMID for ATP7A?

PMID 12539960. S2CID 21471699. Voskoboinik I, Camakaris J (2003). “Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease”.