What chromosome is the ATP7B gene on?
Gene. Wilson disease protein is associated with ATP7B gene, approximately 80 Kb, located on human chromosome 13 and consists of 21 exons. The mRNA transcribed by ATP7B gene has a size of 7.5 Kb, and which encodes a protein of 1465 amino acids.
Where is the ATP7A gene located?
The ATP7A gene, located on locus Xq21. 1 of the human chromosome, contains 23 exons distributed over approximately 140 kb of genomic DNA. It encodes a TM copper-transporting P-type ATPase of 1,500 amino acids. ATP7A contains six copper-binding sites in the cytoplasmic N-terminal.
What gene or chromosome is affected by Wilson’s disease?
Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body.
What is the inheritance pattern of Wilson disease?
Wilson’s disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent. If you receive only one abnormal gene, you won’t become ill yourself, but you’re a carrier and can pass the gene to your children.
What does the ATP7B do?
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 is a health condition that is related to the ATP7B gene?
Results: Wilson’s disease, also named hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene ATP7B.
What is the ATP7A gene?
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.
What is the function of ceruloplasmin?
Your liver normally takes copper from your bloodstream and puts it into ceruloplasmin proteins. The ceruloplasmin is then released into blood plasma. Ceruloplasmin carries copper around your body to the tissues that need it.
What chromosome is hemochromatosis on?
Many mutations in the body’s iron transport system can cause hemochromatosis; however, most cases are caused by mutations in the HFE gene. This is located on chromosome 6, and one mutation leads to the substitution of the 282nd amino acid.
What genetic 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.
Who is most likely to get Wilson’s Disease?
Some studies suggest that males and females are equally affected by Wilson disease, though females are more likely than males to develop acute liver failure due to Wilson disease [5-7]. However, a large registry study of 627 patients with Wilson disease found that there was a slight male predominance (52 percent) [8].
Is ATP7B an enzyme?
ATP7B is a 164 kDa, multi-domain protein that transfers Cu across the cell membrane using energy generated by ATP hydrolysis9,10,11. ATP7B resides in the trans-Golgi network (TGN), where it supplies Cu for the functional maturation of the Cu-dependent enzyme ceruloplasmin.
What is the function of the ATP7B gene?
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 are mutations in the ATP7B exon skipping gene?
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series. An EPR Study on the Interaction between the Cu (I) Metal Binding Domains of ATP7B and the Atox1 Metallochaperone.
Why are ATP7A and ATP7B important for copper metabolism?
The P-type copper ATPases ATP7A and ATP7B provide an important system for acquisition, active transport, distribution and elimination of copper. Relevance of copper metabolism to human diseases and therapy is already known.
How many exons are there in ATP7B splice?
They cloned a splice variant of ATP7B lacking exons 6, 7, 8, and 12 from a human brain cDNA library. The deduced protein contains 1,258 amino acids. Immunofluorescence localization and fractionation of a hepatoma cell line revealed that the full-length protein was associated with the Golgi apparatus and the shorter isoform was cytosolic.