Inositol monophosphatase 3

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IMPAD1
Identifiers
AliasesIMPAD1, GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1
External IDsMGI: 1915720 HomoloGene: 9852 GeneCards: IMPAD1
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for IMPAD1
Genomic location for IMPAD1
Band8q12.1Start56,957,933 bp[1]
End56,993,844 bp[1]
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[edit]

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[edit]