catalog number :
MBS129275
products full name :
GNPAT Polyclonal Antibody
products short name :
GNPAT
products name syn :
DAPAT; DAP-AT; DHAPAT
other names :
glyceronephosphate O-acyltransferase; Acyl-CoA:dihydroxyacetonephosphateacyltransferase; Glycerone-phosphate O-acyltransferase
acyl-CoA:dihydroxyacetonephosphateacylt
ransferase;
Dihydroxyacetone phosphate acyltransferase; Dihydroxyacetone phosphate acyltransferase; dihydroxyacetone phosphate acyltransferase; DHAP-AT; glycerone-phosphate O-acyltransferase;
products gene name :
GNPAT
other gene names :
GNPAT; GNPAT; DAPAT; DAP-AT; DHAPAT; DAPAT; DHAPAT; DAP-AT; DHAP-AT
uniprot entry name :
GNPAT_HUMAN
reactivity :
Human, Mouse, Rat
purity :
Affinity Purification
storage stability :
Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
tested application :
Western Blot (WB), Immunofluorescence (IF)
app notes :
WB: 1:500 - 1:2000. IF: 1:50 - 1:200
other info1 :
Species: Human. Immunogen: Recombinant Protein
other info2 :
Immunogen: Recombinant protein of human GNPAT. Calculated Molecular Weight: 77kDa
products categories :
Polyclonal
products description :
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata.
ncbi pathways :
Glycerophospholipid Biosynthesis Pathway (645313); Glycerophospholipid Metabolism Pathway (82989); Glycerophospholipid Metabolism Pathway (364); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Peroxisomal Lipid Metabolism Pathway (106136); Peroxisome Pathway (131226); Peroxisome Pathway (131126); Phospholipid Metabolism Pathway (645312); Plasmalogen Biosynthesis Pathway (106140)
ncbi summary :
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq, Jul 2008]
uniprot summary :
GNPAT: Defects in GNPAT are the cause of rhizomelic chondrodysplasia punctata type 2 (RCDP2). RDCP2 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Belongs to the GPAT/DAPAT family. Protein type: EC 2.3.1.42; Lipid Metabolism - glycerophospholipid; Transferase. Chromosomal Location of Human Ortholog: 1q42. Cellular Component: peroxisomal membrane; peroxisomal matrix; mitochondrion; membrane; peroxisome. Molecular Function: glycerone-phosphate O-acyltransferase activity; palmitoyl-CoA hydrolase activity; receptor binding. Biological Process: response to drug; response to starvation; synaptogenesis; phospholipid metabolic process; glycerophospholipid biosynthetic process; cerebellum morphogenesis; phosphatidic acid biosynthetic process; cellular lipid metabolic process; response to nutrient; ether lipid biosynthetic process; paranodal junction assembly. Disease: Rhizomelic Chondrodysplasia Punctata, Type 2