IMPAD1 gene

inositol monophosphatase domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Chondrodysplasia with joint dislocations, GPAPP type

From UniProt:

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. [MIM:614078]

Cytogenetic Location: 8q12.1, which is the long (q) arm of chromosome 8 at position 12.1

Molecular Location: base pairs 56,957,929 to 56,993,874 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q12.1, which is the long (q) arm of chromosome 8 at position 12.1
  • GPAPP
  • IMP 3
  • IMP-3
  • IMPA3