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抗Human GNPAT 抗体:
抗Mouse (Murine) GNPAT 抗体:
抗Rat (Rattus) GNPAT 抗体:
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 (显示 HFE 抗体)-related Hemochromatosis (显示 HFE 抗体) patients.
Here, we report the characterization of the recombinant human DHAP (显示 ALDH3A2 抗体) acyl-transferase, which performs the first step in alkyl-DHAP (显示 ALDH3A2 抗体) synthesis.
Reduction of GNPAT activated NF-kappaB (显示 NFKB1 抗体) in glial cell lines and microglia in cortex.
C282Y homozygotes referred for HFE (显示 HFE 抗体) testing commonly have a GNPAT variant. This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE (显示 HFE 抗体) related hemochromatosis (显示 HFE 抗体) 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 (显示 ACOX1 抗体) and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8 (显示 UGT8 抗体)) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG (显示 UGCG 抗体)).
Novel mutations in GNPAT cause rhizomelic chondrodysplasia (显示 COL11A1 抗体) punctata (RCDP) type 2.
peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells
Chromosome 1q42.1 harbors GNPAT and DISC1 (显示 DISC1 抗体) 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