Aliases for IMPAD1 Gene
- Inositol Monophosphatase Domain Containing 1 2 3
- GPAPP 3 4 6
- IMPA3 3 4 6
- Golgi 3-Prime Phosphoadenosine 5-Prime Phosphate 3-Prime Phosphatase 3 4
- Inositol Monophosphatase Domain-Containing Protein 1 3 4
- Inositol-1(Or 4)-Monophosphatase 3 3 4
- Myo-Inositol Monophosphatase A3 3 4
- Golgi-Resident PAP Phosphatase 3 4
External Ids for IMPAD1 Gene
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]
GeneCards Summary for IMPAD1 Gene
IMPAD1 (Inositol Monophosphatase Domain Containing 1) is a Protein Coding gene. Diseases associated with IMPAD1 include chondrodysplasia with joint dislocations, grapp type and catel-manzke syndrome. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include inositol monophosphate 1-phosphatase activity and inositol monophosphate 4-phosphatase activity. An important paralog of this gene is BPNT1.
UniProtKB/Swiss-Prot for IMPAD1 Gene
May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3,5-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation.