XPNPEP3 X-prolyl aminopeptidase 3
Gene ID: 63929, updated on 5-Mar-2024Gene type: protein coding
Also known as: APP3; ICP55; NPHPL1
- See all available tests in GTR for this gene
- Go to complete Gene record for XPNPEP3
- Go to Variation Viewer for XPNPEP3 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Nephronophthisis-like nephropathy 1 | See labs |
Genomic context
- Location:
- 22q13.2
- Sequence:
- Chromosome: 22; NC_000022.11 (40857148..40932815)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for XPNPEP3 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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