DISEASES

Disease-gene associations mined from literature

Literature associating IMPA1 and SPOAN syndrome

IMPA1 [ENSP00000408526]

Inositol monophosphatase 1; 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.

Synonyms:  IMPA1,  IMPA1p,  hIMPA1,  A0A024R830,  A0A140VJL8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM