PAPPA2
Function
Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3.
Involvement in disease
Short stature, Dauber-Argente type
SSDA
An autosomal recessive disorder characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, mildly decreased bone density, and elevated serum levels of total IGF1, IGFBP3 and IGFBP5. Levels of circulating free IGF1 are reduced.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M43B family.
Tissue Specificity
Expressed abundantly in placenta, and non-pregnant mammary gland with low expression in the kidney, fetal brain and pancreas.
Cellular localization
- Secreted
Alternative names
PLAC3, PAPPA2, Pappalysin-2, Pregnancy-associated plasma protein A2, Pregnancy-associated plasma protein E1, PAPP-A2, PAPP-E