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]
BPNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | BPNT2, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1, IMPAD1, 3'(2'), 5'-bisphosphate nucleotidase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614010; MGI: 1915720; HomoloGene: 9852; GeneCards: BPNT2; OMA:BPNT2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
|
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
editMutations 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
edit- ^ a b c GRCh38: Ensembl release 89: ENSG00000104331 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000066324 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: Inositol monophosphatase domain containing 1".