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ATP2C1

ATP2C1

Reviewed May 2013

What is the official name of the ATP2C1 gene?

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.

Read more about gene names and symbols on the About page.

What is the normal function of the ATP2C1 gene?

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).

Does the ATP2C1 gene share characteristics with other genes?

The ATP2C1 gene belongs to a family of genes called ATP (ATPases).

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? in the Handbook.

How are changes in the ATP2C1 gene related to health conditions?

benign chronic pemphigus - caused by mutations in the ATP2C1 gene

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.

Where is the ATP2C1 gene located?

Cytogenetic Location: 3q22.1

Molecular Location on chromosome 3: base pairs 130,850,482 to 131,016,711

The ATP2C1 gene is located on the long (q) arm of chromosome 3 at position 22.1.

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 130,850,482 to base pair 131,016,711 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ATP2C1?

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.

What other names do people use for the ATP2C1 gene or gene products?

  • AT2C1_HUMAN
  • ATP2C1A
  • ATPase 2C1
  • ATPase, Ca(2+)-sequestering
  • ATP-dependent Ca(2+) pump PMR1
  • BCPM
  • calcium-transporting ATPase type 2C member 1
  • HHD
  • hSPCA1
  • HUSSY-28
  • KIAA1347
  • PMR1
  • secretory pathway Ca2+/Mn2+ ATPase 1
  • SPCA1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ATP2C1?

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.

See also Understanding Medical Terminology.

References (8 links)

 

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? in the Handbook.

 
Reviewed: May 2013
Published: November 17, 2014