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IMPA1

Function

Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates.

Involvement in disease

Intellectual developmental disorder, autosomal recessive 59

MRT59

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.

Sequence Similarities

Belongs to the inositol monophosphatase superfamily.

Cellular localization

Alternative names

IMPA, IMPA1, Inositol monophosphatase 1, IMP 1, IMPase 1, D-galactose 1-phosphate phosphatase, Inositol-1(or 4)-monophosphatase 1, Lithium-sensitive myo-inositol monophosphatase A1

swissprot:P29218 omim:602064 entrezGene:3612