Disease-gene associations mined from literature

Literature associating PAPPA and Down syndrome

PAPPA [ENSP00000330658]

Insulin-like growth factor-dependent IGF-binding protein 4 protease; Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF; Belongs to the peptidase M43B family.

Synonyms:  PAPPA,  F5GZ19,  Q13219,  Q5QFB7,  F5GZ19p ...

Linkouts:  STRING  Pharos  UniProt  OMIM