Home > Gene Browser > XPNPEP2

XPNPEP2

Synonyms
AEACEI, APP2
External resources
Summary
Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,608
Likely benign
928
Benign
12,004

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on XPNPEP2 gene.

Phenotype class
Patients in 3billion (%)

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