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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.
Gene Name: | X-prolyl aminopeptidase (aminopeptidase P) 3, putative |
Synonyms: | XPNPEP3, APP3, Aminopeptidase P3, NPHPL1, X-Pro aminopeptidase 3 |
Target Sequences: | NM_022098 NP_071381.1 Q9NQH7 |
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