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FLASH GENE

Symbol

NLRP1

contributors: mct/npt/pgu - updated : 07-10-2019

HGNC name	NLR family, pyrin domain containing 1
HGNC id	14374

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in the bone marrow blast of acute leukaemia tumoral germinal mutation     gain of function in siblings with a syndromic form of recurrent respiratory papillomatosis constitutional       gain of function of the NLRP1 and NLRP3 inflammasomes in Alzheimer disease

Susceptibility

to preeclampsia

Variant & Polymorphism	variant rs12150220 (L155H) was associated with the development of preeclampsia 6)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative   molecular targets for therapeutic intervention in neurodegenerative disorders diabete type 1   modulation of NLRP1 inflammasome might be a promising strategy for Diabetic retinopathy (DR) therapy

ANIMAL & CELL MODELS