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FLASH GENE

Symbol

DSP

contributors: mct/npt - updated : 15-09-2018

HGNC name	desmoplakin
HGNC id	3052

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PPKS2 , DCWHK , ARVD8 , EBSLA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   can lead to loss of cell-cell adhesion via desmosomes, and disrupt the keratin intermediate filament network tumoral       loss of function in lung cancer cell lines, is inactivated by an epigenetic mechanism, increases the sensitivity to anticancer drug-induced apoptosis and has tumor-suppressive function (

Susceptibility

to idiopathic pulmonary fibrosis (IPF)

Variant & Polymorphism other	IPF-associated intron 5 variant (rs2076295) is associated with increased risk of IPF
	rare missense variants in DSP, were identified that have a statistically significant relationship with IPF

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS