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Golgi plays an important role in glycosaminoglycan sulfation and define a function for gPAPP in the formation of skeletal elements derived through endochondral ossification[3'-phosphoadenosine 5'-phosphate phosphatase]
identify JAWS as a key regulator of chondrogenesis and synovial joint positioning required for the restriction of joint formation to discrete stereotyped locations in the embryonic skeleton
concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features
Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP (zeige REG3A Proteine)), the byproduct of sulfotransferase reactions, to AMP (zeige APRT Proteine).
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.
, Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase
, IMPase 3
, golgi-resident PAP phosphatase
, inositol monophosphatase 3
, inositol monophosphatase domain-containing protein 1
, inositol-1(or 4)-monophosphatase 3
, myo-inositol monophosphatase A3
, IMP 3
, inositol monophosphatase domain containing 1
, inositol monophosphatase 3-like
, Golgi-resident PAP phosphatase
, Inositol monophosphatase domain-containing protein 1
, Inositol-1(or 4)-monophosphatase 3
, Myo-inositol monophosphatase A3
, LOW QUALITY PROTEIN: inositol monophosphatase 3