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GNPAT p.D519G is strongly associated with markedly increased iron stores in p.C282Y homozygotes after correction for age, iron-related variables, and alcohol consumption.
GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-related Hemochromatosis patients.
Here, we report the characterization of the recombinant human DHAP acyl-transferase, which performs the first step in alkyl-DHAP synthesis.
Reduction of GNPAT activated NF-kappaB in glial cell lines and microglia in cortex.
C282Y homozygotes referred for HFE testing commonly have a GNPAT variant. This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE related hemochromatosis 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 and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG).
Novel mutations in GNPAT cause rhizomelic chondrodysplasia punctata (RCDP) type 2.
peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells
Chromosome 1q42.1 harbors GNPAT and DISC1 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