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Inositol monophosphatase 3

From Wikipedia, the free encyclopedia
BPNT2
Identifiers
AliasesBPNT2, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1, IMPAD1, 3'(2'), 5'-bisphosphate nucleotidase 2
External IDsOMIM: 614010; MGI: 1915720; HomoloGene: 9852; GeneCards: BPNT2; OMA:BPNT2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017813

NM_177730

RefSeq (protein)

NP_060283

NP_808398

Location (UCSC)Chr 8: 56.96 – 56.99 MbChr 4: 4.76 – 4.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

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).[5]

Clinical significance

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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.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104331Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000066324Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Inositol monophosphatase domain containing 1".