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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104331 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000066324 – Ensembl, 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".


Allikas: http://en.wikipedia.org/wiki/Inositol_monophosphatase_3
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