PITRM1 Chromosome 10
Pitrilysin metallopeptidase 1
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What This Gene Does
The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
M16 metallopeptidases
Locus Type
gene with protein product
Location
10p15.2
Ensembl
ENSG00000107959
Associated Conditions (9)
PITRM1-related disorder
Nonpapillary renal cell carcinoma
Uveal melanoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Spinocerebellar ataxia
autosomal recessive 30
Infantile onset spinocerebellar ataxia
Key Variants
RS115840214
Conflicting classifications of pathogenicity
PITRM1-related disorder, PITRM1-related disorder
Health Risk
RS138864546
Conflicting classifications of pathogenicity
Health Risk
RS190434719
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Uveal melanoma, Gastric cancer
Health Risk
RS201711669
Conflicting classifications of pathogenicity
Health Risk
RS368157059
Conflicting classifications of pathogenicity
Health Risk
RS554941574
Conflicting classifications of pathogenicity
Health Risk
RS759173740
Conflicting classifications of pathogenicity
Health Risk
RS767590298
Conflicting classifications of pathogenicity
Health Risk
RS771721809
Conflicting classifications of pathogenicity
Health Risk
RS771866731
Conflicting classifications of pathogenicity
Health Risk
RS772076883
Conflicting classifications of pathogenicity
Health Risk
RS774266879
Conflicting classifications of pathogenicity
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115840214 | Health Risk | Conflicting classifications of pathogenicity | PITRM1-related disorder, PITRM1-related disorder |
| RS138864546 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190434719 | Health Risk | Conflicting classifications of pathogenicity | Nonpapillary renal cell carcinoma, Uveal melanoma, Gastric cancer |
| RS201711669 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368157059 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS554941574 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759173740 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767590298 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771721809 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771866731 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772076883 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774266879 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79257157 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1249144069 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 30, Spinocerebellar ataxia |
| RS187308159 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 30, Spinocerebellar ataxia |
| RS2132393459 | Health Risk | Pathogenic | Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia |