MINPP1 Chromosome 10
Multiple inositol-polyphosphate phosphatase 1
Upload your DNA to see your personal genotypes for variants in MINPP1.
What This Gene Does
This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Phosphoinositide phosphatases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q23.2
Ensembl
ENSG00000107789
Associated Conditions (7)
Pontocerebellar hypoplasia
type 16
MINPP1-related disorder
Thyroid cancer
nonmedullary
2
Pontoneocerebellar hypoplasia
Key Variants
RS749643952
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS1249046608
Likely pathogenic
MINPP1-related disorder, MINPP1-related disorder
Health Risk
RS1311614264
Likely pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS2131792567
Likely pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS2492553794
Likely pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS748636033
Likely pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS104894171
Pathogenic
Thyroid cancer, nonmedullary, 2
Health Risk
RS119486096
Pathogenic
Thyroid cancer, nonmedullary, 2
Health Risk
RS1851221121
Pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS2131793302
Pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
RS2131815084
Pathogenic
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS1323094107
Pathogenic/Likely pathogenic
Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749643952 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS1249046608 | Health Risk | Likely pathogenic | MINPP1-related disorder, MINPP1-related disorder |
| RS1311614264 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS2131792567 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS2492553794 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS748636033 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS104894171 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 2 |
| RS119486096 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 2 |
| RS1851221121 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS2131793302 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS2131815084 | Health Risk | Pathogenic | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS1323094107 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |
| RS2492635186 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 16, Pontocerebellar hypoplasia |