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Product Name IMPAD1 Chinese Name 肌醇单磷酸酶IMPA3抗体 Alias IMP 3; IMPA3; IMPase 3; Inositol monophosphatase domain containing protein 1; Myo inositol monophosphatase A3. Research Area Tumour Cardiovascular Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Dog, Pig, Cow, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 39kDa Cellular localization cytoplasmic The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human IMPAD1: 81-180/359 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
Function:
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
Subcellular Location:
Golgi apparatus, trans-Golgi network membrane; Single-pass type II membrane protein.
Post-translational modifications:
Contains N-linked glycan resistant to endoglycosydase H.
DISEASE:
Defects in IMPAD1 are the cause of chondrodysplasia with joint dislocations GPAPP type (CDP-GPAPP) [MIM:614078]. A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.
Similarity:
Belongs to the inositol monophosphatase family.
SWISS:
Q9NX62
Gene ID:
54928
Database links:Entrez Gene: 54928 Human
Entrez Gene: 242291 Mouse
Omim: 614010 Human
SwissProt: Q9NX62 Human
SwissProt: Q80V26 Mouse
Unigene: 438689 Human
Unigene: 218889 Mouse
Unigene: 369779 Mouse
Unigene: 65720 Rat
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