HADHA Antibody

1. study indicate described high frequency of c.1528G>C variant of HADHA gene in Kashubian population, suggesting the founder effect. For the first time we have found high frequency of rs71441018 in the South Poland Silesian population PMID: 29095929
2. Low HADHA expression is associated with clear cell renal cell carcinoma. PMID: 26715271
3. Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs. PMID: 26109258
4. findings suggest an auxiliary role for HADHA in miRNA biogenesis and help in better understanding of molecular mechanisms underlying RNAi pathway PMID: 26367179
5. nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation PMID: 25816318
6. revealed a novel G/A allelic change in the intronic region [chromosomal position 26417674; 20 bp adjacent to an already published SNP (rs151243950)] for one among the three acute fatty liver of pregnancy patients PMID: 24105666
7. Crystal structures of human mitochondrial 3-ketoacyl-CoA thiolase (hT1) in the apo form and in complex with CoA have been determined at 2.0 A resolution. The structures confirm the tetrameric quaternary structure of this degradative thiolase. PMID: 25478839
8. Mitochondrial Trifunctional-Protein depletion during hepatitis c virus infection rendered cells less responsive to alpha interferon treatment by impairing IFN-stimulated gene expression. PMID: 25673715
9. Report probable Kashubian origin of the prevalent HADHA c.1528G>C mutation responsible for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. PMID: 20814823
10. Free fatty acids might affect the expression of mitochondrial beta-oxidation enzyme of LCHAD in trophoblast cells. PMID: 23253803
11. mitochondrial alphaTFP exhibits both in vitro and in vivo MLCL AT activity linking an enzyme of mitochondrial beta-oxidation to Cardiolipin remodeling. PMID: 23152787
12. these findings lend support to the hypothesis that mutations in the HADHA gene may be directly associated with and potentially causative of Maternal floor infarction/massive perivillous fibrin deposition PMID: 22746996
13. TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC. PMID: 22583932
14. Both children were homozygous for the common mutation c.1528G>C and the parents were heterozygous for this same mutation. PMID: 22325456
15. High HADHA protein expression is associated with response to platinum-based chemotherapy for lung cancer. PMID: 22471497
16. Results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects. PMID: 21549624
17. Recombinant mitochondrial trifunctional protein displayed 2-enoyl-CoA hydratase, l-3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activities. PMID: 20825197
18. The G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein was not found in 10 women with acute fatty liver of pregnancy. PMID: 11978893
19. Plasma concentration varied more than erythrocyte levels. Postprandial period and fasting. PMID: 12971430
20. Both alpha- and beta-subunit mutations result in TFP complex instability, demonstrating that the mechanism of disease is the same in alpha- or beta-mutation-derived disease and explaining the biochemical and clinical similarities. PMID: 14630990
21. The retinal pigment epithelium rather than the choriocapillaris could be the critical affected cell layer in LCHAD retinopathy PMID: 15347768
22. DNA analysis of patients 1 and 2 revealed homozygosity for a c.1689+2T>G mutation of the HADHA gene, resulting in the skipping of exon 16 with an in-frame 69-bp deletion. PMID: 17143551
23. Neither maternal nor fetal heterozygosity for the E474Q mutation is a relevant factor of HELLP syndrome. PMID: 17313315
24. There might be diverse etiological factors in China contributing to AFLP other than the frequently reported mutation in the LCHAD. PMID: 18031367
25. The second of 220 SIDs cases was a compound heterozygous for the prevalent MTP G1528C mutation and a novel 1 bp deletion in exon 18 of the MTPalpha-subunit gene. PMID: 18045290
26. Severe cardiac mitochondrial proliferation and TFP deficiency was observed in intrauterine cardiomyopathy. PMID: 18485779
27. identify MLCL AT-1 as a human mitochondrial monolysocardiolipin acyltransferase involved in the remodeling of cardiolipin PMID: 19737925

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HGNC: 4801

OMIM: 600890

KEGG: hsa:3030

STRING: 9606.ENSP00000370023

UniGene: Hs.516032