XPNPEP2 Chromosome X
X-prolyl aminopeptidase 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Aminopeptidases|M24 metallopeptidase family"
Locus Type
gene with protein product
Location
Xq26.1
Ensembl
ENSG00000122121
Associated Conditions (1)
Susceptibility to angioedema induced by ACE inhibitors
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS3788853 | Health Risk | risk factor | Susceptibility to angioedema induced by ACE inhibitors, Susceptibility to angioedema induced by ACE inhibitors |