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The protein encoded by XPNPEP3 belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. Additionally we are shipping X-Prolyl Aminopeptidase (Aminopeptidase P) 3, Putative Proteins (5) and many more products for this protein.
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The findings reveal that APP3m is a new member of the TNF (show TNF Antibodies)-TNFR2 (show TNFRSF1B Antibodies) signaling complex and characterize an APP3-mediated TNFR2 (show TNFRSF1B Antibodies) signal transduction mechanism that induces activation of JNK1 (show MAPK8 Antibodies) and JNK2 (show MAPK9 Antibodies).
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein (show COX6B2 Antibodies), develop a nephronophthisis-like nephropathy.
The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.
X-prolyl aminopeptidase (aminopeptidase P) 3, putative
, X-Pro aminopeptidase 3
, probable Xaa-Pro aminopeptidase 3
, aminopeptidase P3