Species Human Entrez 54928 | Human Mouse Ensembl ENSG00000104331 | |
Aliases IMPAD1, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1 External IDs MGI: 1915720 HomoloGene: 9852 GeneCards: IMPAD1 | ||
Inositol monophosphatase 3 also known as inositol monophosphatase domain-containing protein 1 (IMPAD1) is an enzyme that in humans is encoded by the IMPAD1 gene.
This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP).
Clinical significance
Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1.
References
Inositol monophosphatase 3 Wikipedia(Text) CC BY-SA