Inositol monophosphatase 3

IMPAD1
Identifiers
Aliases IMPAD1, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1
External IDs MGI: 1915720 HomoloGene: 9852 GeneCards: IMPAD1
Orthologs
Species Human Mouse
Entrez

54928

242291

Ensembl

ENSG00000104331

ENSMUSG00000066324

UniProt

Q9NX62

Q80V26

RefSeq (mRNA)

NM_017813

NM_177730

RefSeq (protein)

NP_060283.3

NP_808398.1

Location (UCSC) Chr 8: 56.96 – 56.99 Mb Chr 4: 4.76 – 4.79 Mb
PubMed search [1] [2]
Wikidata
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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.[3]

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).[3]

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.[3]

References

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