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- CDHF4
- DG1
- DSG
- desmoglein 1
- desmosomal glycoprotein 1
- Desmoglein 1 precursor (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus
foliaceus antigen).
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Desmosomes are cell-cell
junctions between epithelial, myocardial and certain other cell types.
Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of
desmosomes in vertebrate epithelial cells. Currently, three desmoglein
subfamily members have been identified and all are members of the cadherin
cell adhesion molecule superfamily. These desmoglein gene family members
are located in a cluster on chromosome 18. The protein encoded by this
gene has been identified as the autoantigen of the autoimmune skin
blistering disease pemphigus foliaceus.
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- Location: 18q12.1
- Orientation: plus strand
- Size: 38,407 bp
- 15 exons
- DNA sequence (Human):
NC_000018

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- Mutations and SNPs (According to
HGMD and
SNP)
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