Inositol monophosphatase 3

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Inositol monophosphatase domain containing 1
Identifiers
Symbols IMPAD1 ; GPAPP; IMP 3; IMP-3; IMPA3
External IDs OMIM614010 HomoloGene9852 GeneCards: IMPAD1 Gene
EC number 3.1.3.25, 3.1.3.7
Orthologs
Species Human Mouse
Entrez 54928 242291
Ensembl ENSG00000104331 ENSMUSG00000066324
UniProt Q9NX62 Q80V26
RefSeq (mRNA) NM_017813 NM_177730
RefSeq (protein) NP_060283 NP_808398
Location (UCSC) Chr 8:
56.96 – 56.99 Mb
Chr 4:
4.76 – 4.79 Mb
PubMed search [1] [2]

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.[1]

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).[1]

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.[1]

References[edit]