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FLASH GENE

Symbol

PI3

contributors: mct - updated : 27-11-2017

HGNC name	protease inhibitor 3, skin-derived (SKALP)
HGNC id	8947

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 constitutional     --over   higher PI3 expression in preterm prelabor rupture of membranes (PPROM fetal membranes suggests a host response to an inflammatory pathology tumoral     --low   in the majority of breast cancer cell lines compared with normal human mammary epithelial cells constitutional     --low   in tubal epithelium of women with hydrosalpinx with, likely, a lower expression of elafin, an elastase inhibitor and a natural antimicrobial molecule, compared to normal tubes

Susceptibility

to acute respiratory distress syndrome (ARDS)

Variant & Polymorphism SNP	association between SNP rs2664581 in the PI3 gene, increased risk of acute respiratory distress syndrome (ARDS) and pre-elafin circulating levels

Candidate gene
Marker	may serve as a biomarker in high-grade serous ovarian cancers and basal-like breast tumors
	Elafin predicts poor outcome in breast and ovarian cancer patients
	serves as a prognostic indicator for breast cancer patients
	elafin has significant diagnostic and prognostic value as a biomarker of skin Graft-versus-host disease (GVHD)
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary therapeutic target in high-grade serous ovarian cancers and basal-like breast tumors respiratory lung   may be a new therapeutic target for preventing O2-induced lung injury in neonates

ANIMAL & CELL MODELS