IMPAD1 (Entrez ID: 54928)

Entrez Gene ID 54928
Official Gene Symbol IMPAD1 (GeneCards)
Full name inositol monophosphatase domain containing 1
Location 8q12.1
Other ids Vega : OTTHUMG00000164415
MIM : 614010
HGNC : HGNC:26019
Ensembl : ENSG00000104331
Other names GPAPP, IMP3, IMP-3, IMPA3
Summary 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). 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. [provided by RefSeq, Dec 2011]

Variants

Found 4 variants in this database.