Gene Symbol | XPNPEP3 |
Entrez Gene ID | 63929 |
Full Name | X-prolyl aminopeptidase 3 |
Synonyms | APP3,ICP55,NPHPL1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis-like nephropathy 1, 613159 (3) |