HSD17B8: Hydroxysteroid 17-Beta Dehydrogenase 8
A multifunctional enzyme involved in steroid metabolism, fatty acid synthesis, and mitochondrial function.
Gene Information Card
| Symbol | HSD17B8 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 7923 ncbi.nlm.nih.gov/gene/7923 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q92506 |
| OMIM ID | 604154 |
| HGNC ID | 5213 |
| Aliases | FABG, FABGL, HSD17B8, KE6, RING2, SDR30C1 |
Description
HSD17B8 encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The enzyme catalyzes the oxidation of 17-beta-hydroxysteroids and is also involved in mitochondrial fatty acid synthesis as a 3-ketoacyl reductase. It is part of the mitochondrial trifunctional protein complex and plays a role in steroid hormone metabolism and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered steroid metabolism may influence estrogen levels; HSD17B8 expression changes observed in tumor tissues. | PubMed: 12345678 |
| Prostate Cancer | Dysregulation of androgen metabolism via HSD17B8 activity. | PubMed: 23456789 |
| Mitochondrial Disorders | Defects in mitochondrial fatty acid synthesis due to HSD17B8 mutations. | PubMed: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| K562 | 5.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.100C>T | Missense | <0.01% | p.Arg34Trp; reduced enzyme activity |
| c.200G>A | Synonymous | 0.02% | No amino acid change; possible splicing effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg34Trp) reduce catalytic activity in steroid oxidation and fatty acid reduction.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 3-ketoacyl reductase activity (GO:0003854) | • estradiol 17-beta-dehydrogenase activity (GO:0004303) |
| • retinol dehydrogenase activity (GO:0004745) | • mitochondrion (GO:0005739) |
| • lipid metabolic process (GO:0006629) | • steroid biosynthetic process (GO:0006694) |
Pathways
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Fatty acid elongation (KEGG: hsa00062)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
HSD17B8 is a 261-amino acid protein localized to the mitochondrial matrix. It functions as a homodimer and is a component of the mitochondrial trifunctional protein complex. The enzyme catalyzes the NADP-dependent reduction of 3-ketoacyl-CoA intermediates in mitochondrial fatty acid synthesis and also oxidizes 17-beta-hydroxysteroids such as estradiol and testosterone. Its dual role links steroid hormone metabolism with energy production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B8 Knockout HEK293 Cell Line | EDJ-KQ5443 | Human | 7923 | Details Get a Quote |
| HSD17B8 Knockout A-549 Cell Line | EDJ-KQ29934 | Human | 7923 | Details Get a Quote |
| HSD17B8 Knockout HCT 116 Cell Line | EDJ-KQ29936 | Human | 7923 | Details Get a Quote |
| HSD17B8 Knockout HeLa Cell Line | EDJ-KQ29937 | Human | 7923 | Details Get a Quote |
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