Desmoplakin

Alternative Names

  • DSP
  • Desmoplakin I
  • DSPI
  • Desmoplakin II
  • DSPII
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OMIM Number

125647

NCBI Gene ID

1832

Uniprot ID

P15924

Length

45,140 bases

No. of Exons

24

No. of isoforms

3

Protein Name

Desmoplakin

Molecular Mass

331774 Da

Amino Acid Count

2871

Genomic Location

chr6:7,541,575-7,586,714

Gene Map Locus
6p24.3

Description

Desmosomes are major proteins in cell adhesion junctions, particularly in the epidermis and cardiac tissue and are important for the rigidity and strength of the cells. The DSP gene encodes a protein involved in the organisation of desmosomes as well as the anchoring of intermediate filaments to desmosomes.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004415.3:c.1865T>CLebanonchr6:7571546PathogenicPathogenicCardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth AgenesisNG_008803.1:g.34910T>C; NM_004415.3:c.1865T>C; NP_004406.2:p.Leu622Pro1554107098372127
NM_004415.3:c.7097G>ASaudi Arabiachr6:7584359PathogenicPathogenicSkin Fragility-Woolly Hair SyndromeNG_008803.1:g.47723G>A; NM_004415.3:c.7097G>A; NP_004406.2:p.Arg2366His38790661829672
NM_004415.4:c.2723G>ALebanonchr6:7576386Benign, Likely BenignLikely BenignNG_008803.1:g.39750G>A; NM_004415.4:c.2723G>A; NP_004406.2:p.Arg908His142494121177781
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