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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 (show HFE Proteins)-related Hemochromatosis (show HFE Proteins) patients.
Here, we report the characterization of the recombinant human DHAP (show ALDH3A2 Proteins) acyl-transferase, which performs the first step in alkyl-DHAP (show ALDH3A2 Proteins) synthesis.
Reduction of GNPAT activated NF-kappaB (show NFKB1 Proteins) in glial cell lines and microglia in cortex.
C282Y homozygotes referred for HFE (show HFE Proteins) testing commonly have a GNPAT variant. This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE (show HFE Proteins) related hemochromatosis (show HFE Proteins) 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 Proteins) and GNPAT silencing up-regulated ceramide galactosyltransferase (show GGTA1 Proteins) (UGT8 (show UGT8 Proteins)) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG (show UGCG Proteins)).
Novel mutations in GNPAT cause rhizomelic chondrodysplasia (show COL11A1 Proteins) 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 Proteins) 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