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XPNPEP1

Synonyms
APP1, SAMP, XPNPEP, XPNPEPL, XPNPEPL1
External resources
Summary
This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.

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
4,446
Likely benign
2,022
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on XPNPEP1 gene.

Phenotype class
Patients in 3billion (%)

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