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GNPAT encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Additionally we are shipping GNPAT Proteins (6) and GNPAT Kits (4) and many more products for this protein.
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Human Polyclonal GNPAT Primary Antibody for EIA, WB - ABIN453064
Ofman, Lajmir, Wanders: Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. in Biochemical and biophysical research communications 2001
C282Y homozygotes referred for HFE (show HFE Antibodies) testing commonly have a GNPAT variant. This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE (show HFE Antibodies) related hemochromatosis (show HFE Antibodies) in this population. The GNPAT variant does not predict the severity of iron overload.
The variant of the GNPAT gene showed the most significant association with severe iron overload.
ACOX1 (show ACOX1 Antibodies) and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8 (show UGT8 Antibodies)) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG (show UGCG Antibodies)).
Novel mutations in GNPAT cause rhizomelic chondrodysplasia (show COL11A1 Antibodies) punctata (RCDP) type 2.
peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells
Chromosome 1q42.1 harbors GNPAT and DISC1 (show DISC1 Antibodies) as candidate genes for schizophrenia.
Data show that EL deficiency (DHAPAT-null) caused the reduction in synaptic respiratory activity and consequently the decrease in the ATP/ADP ratio by >20%.
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.
, glyceronephosphate O-acyltransferase
, dihydroxyacetone phosphate acyltransferase
, dihydroxyacetone phosphate acyltransferase-like
, glycerone-phosphate O-acyltransferase
, acyl-CoA:dihydroxyacetonephosphate acyltransferase