• Gene id: 5069

Gene Summary

• Gene Symbol: PAPPA   Gene   UCSC   Ensembl
• Aliases: ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
• Gene name: pappalysin 1
• Alternate names: pappalysin-1, IGF-dependent IGFBP-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein, insulin-like growth factor-dependent IGF binding protein-4 protease, pregnancy-associated plasma protein A, pappalysin 1,
• Gene location: 9q33.1 (116153751: 116402320)     Exons: 22     NC_000009.12
• Gene summary(Entrez): This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathwa
• OMIM: 176385

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Poor ovarian response (POR)	INFBASE: 21474127
Embryo development	INFBASE: 17070193
Female infertility	INFBASE: 19342032
Follicular development	INFBASE: 26297643
Oocyte maturation	INFBASE: 17070193
Polycystic ovary syndrome (PCOS)	INFBASE: 20528206
Endometriosis	INFBASE: 15985492
Preeclampsia	INFBASE: 24444293
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 19514652
Associated with sperm motility	MIK: 2427179
Female infertility	INFBASE: 18164000
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with sperm motility	MIK: 2427179
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
2427179	Associated with sperm motility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881