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For Research Use Only. Not For Clinical Use.


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]
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Suprabasal keratinocytes, Squamous epithelial cells, Basal keratinocytes, Cardiomyocytes)

Immune cell specificity

Immune cell enriched (naive B-cell)

Cell line specificity

Cell line enhanced (BEWO, HaCaT, HBEC3-KT, hTCEpi, SuSa)

Interaction

Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2. Interacts with PKP2. Interacts weakly with TMEM65 (By similarity).

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