DSP

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What is the official name of the DSP gene?

The official name of this gene is “desmoplakin.”

DSP is the gene's official symbol. The DSP 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 DSP gene?

The DSP gene provides instructions for making a protein called desmoplakin. This protein is found primarily in cells of the heart and skin, where it is a major component of specialized structures called desmosomes. These structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).

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

keratoderma with woolly hair - caused by mutations in the DSP gene: Several mutations in the DSP gene have been found to cause a form of keratoderma with woolly hair classified as type II. This form of the condition is also known as Carvajal syndrome. It is characterized by thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); coarse, dry, fine, and tightly curled hair; and a potentially life-threatening form of heart disease called dilated left ventricular cardiomyopathy.
The DSP gene mutations that cause keratoderma with woolly hair type II lead to the production of an abnormally short version of the desmoplakin protein. The abnormal protein alters the structure of desmosomes, preventing cells from attaching to one another effectively. Researchers suspect that the impaired connections between cells make the skin, hair, and heart muscle more fragile. Over time, as these tissues are exposed to mechanical stress (for example, friction on the surface of the skin or the constant contraction and relaxation of the heart muscle), they become damaged and can no longer function normally. This mechanism probably underlies the skin, hair, and heart problems that occur in keratoderma with woolly hair type II. Studies suggest that abnormal cell signaling may also contribute to cardiomyopathy in people with this condition.
other disorders - caused by mutations in the DSP gene: DSP gene mutations have also been found to cause a spectrum of signs and symptoms that overlap with those of keratoderma with woolly hair type II (described above). A few families have had similar skin, hair, and heart abnormalities plus missing or unusually small teeth. Other families have had skin and hair abnormalities similar to keratoderma with woolly hair type II but no apparent heart problems. Still others have had palmoplantar keratoderma only, without any other features. DSP gene mutations can also cause a potentially life-threatening form of heart disease called arrhythmogenic right ventricular cardiomyopathy (ARVC) without abnormalities of the skin and hair. Although these conditions are all related to impaired function of desmoplakin and abnormal desmosomes, it is unclear how mutations in this gene lead to these different patterns of features.
At least four mutations in the DSP gene have been identified in people with a disorder called lethal acantholytic epidermolysis bullosa (LAEB). Features of this condition include very fragile skin that blisters and detaches easily, a complete absence of hair (alopecia), abnormal or missing fingernails, teeth that are present from birth (neonatal teeth), and abnormalities of the heart muscle (cardiomyopathy). The skin abnormalities lead to a severe loss of fluids and death in early infancy. Like the mutations that cause keratoderma with woolly hair type II, the mutations associated with LAEB lead to an abnormally short version of desmoplakin and impaired function of desmosomes. However, the protein associated with LAEB is missing additional regions, which probably accounts for the more severe signs and symptoms associated with this condition.

Genetics Home Reference provides information about arrhythmogenic right ventricular cardiomyopathy, which is also associated with changes in the DSP gene.

Where is the DSP gene located?

Cytogenetic Location: 6p24

Molecular Location on chromosome 6: base pairs 7,541,575 to 7,586,713

The DSP gene is located on the short (p) arm of chromosome 6 at position 24.

More precisely, the DSP gene is located from base pair 7,541,575 to base pair 7,586,713 on chromosome 6.

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

Where can I find additional information about DSP?

You and your healthcare professional may find the following resources about DSP helpful.

Educational resources - Information pages (2 links)
Gene Reviews - Clinical summary (3 links)
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog (6 links)
Research Resources - Tools for researchers (5 links)

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

250/210 kDa paraneoplastic pemphigus antigen
DCWHKTA
desmoplakin I
desmoplakin II
desmoplakin isoform I
desmoplakin isoform II
DP
DPI
DPII
KPPS2
PPKS2

See How are genetic conditions and genes named? in the Handbook.

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 DSP?

alopecia ; apoptosis ; cardiomyopathy ; cell ; contraction ; differentiation ; dilated ; gene ;intermediate filaments ; keratoderma ; neonatal ; palmoplantar keratoderma ; protein ; spectrum ;stress ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (10 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