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The official name of this gene is “ATPase, Ca++ transporting, type 2C, member 1.”
ATP2C1 is the gene's official symbol. The ATP2C1 gene is also known by other names, listed below.
The ATP2C1 gene provides instructions for making a protein called hSPCA1. This protein is an adenosine triphosphate (ATP)-powered calcium pump, which uses energy from ATP molecules to pump charged calcium atoms (calcium ions) across cell membranes. Specifically, the hSPCA1 protein transports calcium ions into a cell structure called the Golgi apparatus, where they are stored until needed. The appropriate storage and release of calcium is essential for many cell activities, including cell growth and division, cell movement, and attachment of cells to one another (cell adhesion).
The hSPCA1 protein also transports manganese ions into the Golgi apparatus. Manganese works with a variety of enzymes and is involved in processing newly formed proteins.
The hSPCA1 protein is present in cells throughout the body. It appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis).
The ATP2C1 gene belongs to a family of genes called ATP (ATPase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 100 mutations in the ATP2C1 gene have been found to cause benign chronic pemphigus, a rare skin condition characterized by red, raw, and blistered areas of skin. Mutations in this gene reduce the amount of functional hSPCA1 protein, which impairs the storage of calcium ions in the Golgi apparatus. For unknown reasons, this abnormal calcium storage affects keratinocytes more than other types of cells. Problems with calcium regulation impair many cell functions, including cell adhesion. As a result, keratinocytes do not stick tightly to one another, which causes the epidermis to become fragile and less resistant to minor trauma. Because the skin is easily damaged, it develops raw, blistered areas, particularly in skin folds where there is moisture and friction.
Although ATP2C1 gene mutations probably also affect the transport of manganese within cells, abnormal manganese regulation is not thought to contribute to the signs and symptoms of benign chronic pemphigus.
Cytogenetic Location: 3q22.1
Molecular Location on chromosome 3: base pairs 130,569,326 to 130,735,555
The ATP2C1 gene is located on the long (q) arm of chromosome 3 at position 22.1.
More precisely, the ATP2C1 gene is located from base pair 130,569,326 to base pair 130,735,555 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ATP2C1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenosine triphosphate ; ATP ; benign ; Ca ; calcium ; cell ; cell adhesion ; chronic ; epidermis ; gene ; Golgi apparatus ; ions ; protein ; trauma
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.