Aliases for XPNPEP3 Gene
External Ids for XPNPEP3 Gene
Previous GeneCards Identifiers for XPNPEP3 Gene
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.[provided by RefSeq, Mar 2011]
GeneCards Summary for XPNPEP3 Gene
XPNPEP3 (X-Prolyl Aminopeptidase 3, Mitochondrial) is a Protein Coding gene. Diseases associated with XPNPEP3 include Nephronophthisis-Like Nephropathy 1 and Late-Onset Nephronophthisis. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity.