IMPAD1 Peptide - Middle Region Blocking Peptide

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]

IMPAD1: 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. Defects in IMPAD1 are the cause of chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP). A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. Belongs to the inositol monophosphatase family.

Protein type: Membrane protein, integral; EC 3.1.3.25; Phosphatase (non-protein); EC 3.1.3.7

Chromosomal Location of Human Ortholog: 8q12.1

Cellular Component: Golgi apparatus; membrane; integral to membrane

Molecular Function: 3'-nucleotidase activity; metal ion binding; inositol-1(or 4)-monophosphatase activity; 3'(2'),5'-bisphosphate nucleotidase activity

Biological Process: chondroitin sulfate metabolic process; dephosphorylation; phosphoinositide phosphorylation; inositol biosynthetic process; embryonic digit morphogenesis; chondrocyte development; endochondral ossification; post-embryonic development

Disease: Chondrodysplasia With Joint Dislocations, Gpapp Type