HSD17B4 Antibody

1. This study reveals a crosstalk between acetylation and chaperone-mediated autophagy degradation in HSD17B4 regulation. PMID: 28296597
2. we identified that methylation of the promoter CpG island of HSD17B4 was associated with the pathological complete response of HER2-positive breast cancer to trastuzumab and chemotherapy with a specificity of 79% PMID: 28186977
3. Our findings supported that HSD17B4 was one of the genes contributing to Perrault syndrome in this consanguineous Chinese Han family. PMID: 28830375
4. ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 PMID: 26970254
5. Results show that HSD17B4 is highly expressed in hepatocellular carcinoma (HCC) cells and activated NF-kappaB co-localized with the NF-kappaB-responsive element of HSD17B4 suggesting that HSD17B4 plays an important role in aggravated HCC progression. PMID: 25448063
6. Structural MFE-2 instability is the molecular basis of D-bifunctional protein deficiency type III. PMID: 23308274
7. Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. PMID: 23181892
8. Molecular models of domain structure of MFE-2 from human, C. elegans, and Drosophila melanogaster lend support to possible structural role of MFE-2 domains including SCP-2L (sterol carrier protein 2-like) domain in human and C. elegans proteins. PMID: 23313254
9. Epistasis between the HSD17B4 and thyroglobulin polymorphisms is associated with premature ovarian failure. A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF PMID: 22265031
10. The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established. PMID: 20949532
11. MFE2 anchors its substrate around the region from Trp(249) to Arg(251) and positions the substrate along the hydrophobic cavity in the proper direction toward the catalytic center PMID: 20566640
12. Perrault syndrome and DBP deficiency overlap clinically and Perrault syndrome is genetically heterogeneous. PMID: 20673864
13. rs11205 in HSD17B4 was associated with testicular germ cell tumor. Risk doubled per copy of the minor A allele. Homozygosity of this allele quadrupled the risk vs. homozygous major G allele. The risk was increased both for seminoma & nonseminoma. PMID: 19776291
14. crystal structure of 2-enoyl-CoA hydratase 2 PMID: 15644212
15. Deficiency of this enzyme in man causes a severe developmental syndrome with abnormalities in several organs but in particular in the brain, leading to death within the first year of life. PMID: 16766224
16. HSD17B4 is not only associated with the presence of prostate cancer, but is also a significant independent predictor of poor patient outcome. PMID: 19100308
17. HSD17B4 mRNA is expressed in human skin, at similar levels in men and women. HSD17B4 levels are not altered by topical 17-beta-estradiol treatment. PMID: 18794456

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HGNC: 5213

OMIM: 233400

KEGG: hsa:3295

STRING: 9606.ENSP00000420914

UniGene: Hs.406861