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FLASH GENE

Symbol

DSG1

contributors: mct - updated : 16-12-2016

HGNC name	desmoglein 1
HGNC id	3048

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PPKS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   associated with a worse prognosis in head and neck squamous cell carcinoma constitutional     --low   with DSC1, were dramatically reduced in the upper most living layers of the epidermis in Netherton syndrome constitutional       loss of function analysis of epidermis from DSG1-deficient patients with striate palmoplantar keratoderma (SPPK) demonstrated increased RAS-SHOC2 colocalization and decreased ERBIN-SHOC2 colocalization, offering a possible explanation for the observed epidermal defects

Susceptibility

to pemphigus foliaceus

Variant & Polymorphism

Candidate gene
Marker	target autoantigen of pathogenic autoantibodies produced by pemphigus foliaceus and 50p100 of pemphigus vulgaris patients in a DSG1-specific T-cell-dependent pathway
Therapy target

ANIMAL & CELL MODELS