This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

  • Desmosome organization
  • Ventricular compact myocardium morphogenesis
  • Epidermis development
  • Peptide cross-linking
  • Keratinocyte differentiation
  • Skin fragility-woolly hair syndrome
  • Cardiomyopathy, dilated, with woolly hair and keratoderma
  • Epidermolysis bullosa, lethal acantholytic
  • Arrhythmogenic right ventricular dysplasia, familial, 8
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
  • General Cardiomyopathy
  • Cardiomuscular
  • ARVC
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Emw. Structure of the DSP protein. Based on PyMOL rendering of PDB 1lm5.

Gene Location

HM-VUS Prevalence

% 0.102145045965271

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

C=0.000203(51/251280,GnomAD_exome)
C=0.000550(69/125568,TOPMED)
C=0.000215(26/120836,ExAC)
C=0.00006(5/78700,PAGE_STUDY)
C=0.00041(13/31408,GnomAD)
C=0.00100(13/13006,GO-ESP)
C=0.00027(3/11176,ALFAProject)
C=0.0002(1/5008,1000G)
C=0.0002(1/4480,Estonian)
C=0.0003(1/3854,ALSPAC)
C=0.0013(5/3708,TWINSUK)