Inositol monophosphatase 3

Inositol monophosphatase domain containing 1
Identifiers
SymbolsIMPAD1 ; GPAPP; IMP 3; IMP-3; IMPA3
External IDsOMIM: 614010 HomoloGene: 9852 GeneCards: IMPAD1 Gene
EC number3.1.3.25, 3.1.3.7
Orthologs
SpeciesHumanMouse
Entrez54928242291
EnsemblENSG00000104331ENSMUSG00000066324
UniProtQ9NX62Q80V26
RefSeq (mRNA)NM_017813NM_177730
RefSeq (protein)NP_060283NP_808398
Location (UCSC)Chr 8:
57.87 – 57.91 Mb		Chr 4:
4.76 – 4.79 Mb
PubMed search

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.[1]

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).[1]

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.[1]

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: Inositol monophosphatase domain containing 1".