Gene: XPNPEP3

Alternate names for this Gene: APP3|ICP55|NPHPL1

Gene Summary: 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 is located in Chromosome: 22

Location in Chromosome : 22q13.2

Description of this Gene: X-prolyl aminopeptidase 3

Type of Gene: protein-coding