IMPA1 (inositol monophosphatase 1) — Gene

What This Gene Does

This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]

Gene Info

Gene Group

Phosphoinositide phosphatases

Locus Type

gene with protein product

Location

8q21.13

Ensembl

ENSG00000133731

Associated Conditions (2)

Intellectual disability

autosomal recessive 59

Key Variants

RS1308325707

Likely pathogenic

Intellectual disability, autosomal recessive 59, Intellectual disability

Health Risk

RS1057519491

Pathogenic

Intellectual disability, autosomal recessive 59, Intellectual disability

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1308325707	Health Risk	Likely pathogenic	Intellectual disability, autosomal recessive 59, Intellectual disability
RS1057519491	Health Risk	Pathogenic	Intellectual disability, autosomal recessive 59, Intellectual disability

IMPA1 Chromosome 8