GNPAT Antibody, HRP conjugated

1. 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. PMID: 27936396
2. GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-related Hemochromatosis patients. PMID: 28425416
3. Here, we report the characterization of the recombinant human DHAP acyl-transferase, which performs the first step in alkyl-DHAP synthesis. PMID: 27836547
4. Reduction of GNPAT activated NF-kappaB in glial cell lines and microglia in cortex. PMID: 28292831
5. 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. PMID: 27740525
6. The variant of the GNPAT gene showed the most significant association with severe iron overload. PMID: 25605615
7. ACOX1 and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG). PMID: 23933200
8. Novel mutations in GNPAT cause rhizomelic chondrodysplasia punctata (RCDP) type 2. PMID: 21990100
9. peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells PMID: 15687349
10. Chromosome 1q42.1 harbors GNPAT and DISC1 as candidate genes for schizophrenia. PMID: 16997000

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HGNC: 4416

OMIM: 222765

KEGG: hsa:8443

STRING: 9606.ENSP00000355607

UniGene: Hs.498028