XPNPEP3 Chromosome 22
X-prolyl aminopeptidase 3
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What This Gene Does
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]
Gene Info
Gene Group
"Aminopeptidases|M24 metallopeptidase family"
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000196236
Associated Conditions (7)
Kidney disorder
Nephronophthisis-like nephropathy 1
XPNPEP3-related disorder
Inborn genetic diseases
Melanoma
Familial cancer of breast
Papillary renal cell carcinoma type 1
Key Variants
RS116758113
Conflicting classifications of pathogenicity
Kidney disorder, Nephronophthisis-like nephropathy 1, XPNPEP3-related disorder
Health Risk
RS137859412
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS138501598
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Inborn genetic diseases, XPNPEP3-related disorder
Health Risk
RS143719656
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS146023695
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS146309087
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS149609214
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS151167805
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS199693203
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Inborn genetic diseases, Nephronophthisis-like nephropathy 1
Health Risk
RS376777685
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS749916100
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
RS780504129
Conflicting classifications of pathogenicity
Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116758113 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, Nephronophthisis-like nephropathy 1, XPNPEP3-related disorder |
| RS137859412 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS138501598 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Inborn genetic diseases, XPNPEP3-related disorder |
| RS143719656 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS146023695 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS146309087 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS149609214 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS151167805 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS199693203 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Inborn genetic diseases, Nephronophthisis-like nephropathy 1 |
| RS376777685 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS749916100 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS780504129 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS2146274500 | Health Risk | Likely pathogenic | — |
| RS2517973284 | Health Risk | Likely pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS2517999041 | Health Risk | Likely pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS751910922 | Health Risk | Likely pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS769010051 | Health Risk | Likely pathogenic | Nephronophthisis-like nephropathy 1, Papillary renal cell carcinoma type 1, Nephronophthisis-like nephropathy 1 |
| RS2058187525 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS2146254238 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS2146270895 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS267607179 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS373917063 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |
| RS759863454 | Health Risk | Pathogenic | Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1 |