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FLASH GENE

Symbol

HTRA2

contributors: mct/npt/pgu - updated : 13-06-2019

HGNC name	HtrA serine peptidase 2
HGNC id	14348

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PARK13 , MGCA8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   may contribute to the potent anti-atherosclerotic effect of shear stress by preventing endothelial cells from entering apoptosis

Susceptibility

to Parkinson disease (not PARK3) ton Alzheimer disease (AD)

Variant & Polymorphism other	mutation G399S and A141S increasing the risk of Parkinson disease (mutation associated with altered mitochondrial morphology)
	a weak association of A141S with AD

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   is an attractive target for anti-colitis treatment

ANIMAL & CELL MODELS

	neurodegeneration and juvenile lethality in mnd2 (motor neuron degeneration-2) mice result from the missense mutation ser276 to cys (S276C) in the protease domain of the nuclear-encoded mitochondrial serine protease Omi
	mice lacking Omi/HtrA2 exhibited progeria symptoms (premature aging)