MINPP1

Chr 10

multiple inositol-polyphosphate phosphatase 1

Also known as: HIPER1, MINPP2, MIPP, PCH16

NCBI Gene: 9562 ENSG00000107789 UniProt: Q9UNW1

Multiple inositol polyphosphate phosphatase hydrolyzes inositol pentakisphosphate and hexakisphosphate to regulate intracellular second messenger availability and may also function as a 2,3-bisphosphoglycerate phosphatase in glycolysis. Mutations cause pontocerebellar hypoplasia type 16 with autosomal recessive inheritance and follicular thyroid carcinoma through somatic mutations. This gene is not highly constrained against loss-of-function variants and primarily affects cerebellar and brainstem development along with thyroid tissue.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtThyroid cancer, non-medullary, 2

UniProtPontocerebellar hypoplasia 16

Clinical highlights

Gene-disease validity (ClinGen)

pontocerebellar hypoplasia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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