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  3. DSP

DSP (Desmoplakin)

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Summary of DSP

This gene encodes a protein that is part of desmosomes. Desmosomes help hold neighboring cells together, are involved in in chemical signaling pathways, cell differentiation, and the self-destruction of cells (R).

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The Function of DSP

Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

Protein names

Recommended name:

Desmoplakin

Short name:

DP

Alternative name(s):

250/210 kDa paraneoplastic pemphigus antigen

DSP SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS2076295 (DSP) ??
  2. RS28931610 (DSP) ??
  3. RS34738426 (DSP) ??

Top Gene-Substance Interactions

DSP Interacts with These Diseases

Disease Score

Substances That Increase DSP

Substances Interaction Organism Category

Substances That Decrease DSP

Substances Interaction Organism Category

Advanced Summary

     arrhythmogenic right ventricular cardiomyopathy Genetics Home Reference provides information about arrhythmogenic right ventricular cardiomyopathy. keratoderma with woolly hair 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 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.

     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).

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • p53
  • AP-1
  • c-Jun
  • NF-kappaB1
  • AML1a

Tissue specificity:

Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.

Gene Pathways:

  • Apoptosis
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Molecular Function:

  • Cell Adhesive Protein Binding Involved In Bundle Of His Cell-Purkinje Myocyte Communication
  • Poly(A) Rna Binding
  • Protein Binding, Bridging
  • Protein Kinase C Binding
  • Scaffold Protein Binding
  • Structural Constituent Of Cytoskeleton
  • Structural Molecule Activity

Biological Processes:

  • Adherens Junction Organization
  • Bundle Of His Cell-Purkinje Myocyte Adhesion Involved In Cell Communication
  • Desmosome Organization
  • Epidermis Development
  • Intermediate Filament Organization
  • Keratinocyte Differentiation
  • Peptide Cross-Linking
  • Protein Localization To Adherens Junction
  • Regulation Of Heart Rate By Cardiac Conduction
  • Regulation Of Ventricular Cardiac Muscle Cell Action Potential
  • Ventricular Compact Myocardium Morphogenesis
  • Wound Healing
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| 250/210 kDa paraneoplastic pemphigus antigen| Anapl_03788| AS27_14646| AS28_04276| CB1_000526031| DCWHKTA| desmoplakin I/II| desmosomal cytoskeletal connector molecule| dispersed| DP| dpi| dpii| M91_06211| MDA_GLEAN10009407| N300_12589| N301_09356| N302_00446| N303_07663| N305_08789| N306_10615| N307_12185| N308_04376| N309_10145| N310_09951| N311_03762| N312_12622| N320_04364| N321_09432| N322_05022| N324_07408| N325_06168| N326_13500| N328_11600| N329_07108| N330_07607| N331_10109| N332_08722| N333_03726| N334_12669| N335_13019| N336_01271| N339_07266| N340_12695| PAL_GLEAN10016476| rul| TREES_T100000100| UY3_11210| Y1Q_025838| Y956_11881| Z169_05394| dsp

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