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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSD17B12
hydroxysteroid 17-beta dehydrogenase 12
Chromosome 11 · 11p11.2
NCBI Gene: 51144Ensembl: ENSG00000149084.14HGNC: HGNC:18646UniProt: Q53GQ0
174PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingvery-long-chain 3-oxoacyl-CoA reductase activityfatty acid elongation, saturated fatty acidfatty acid elongase complexAlzheimer diseasemultiple sclerosisParkinson diseaseneurodegenerative disease
✦AI Summary

HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12) is a multifunctional enzyme that primarily catalyzes the reduction of 3-ketoacyl-CoA to 3-hydroxyacyl-CoA in the fatty acid elongation pathway, contributing to very long-chain fatty acid (VLCFA) synthesis in the endoplasmic reticulum 1. The enzyme plays a crucial role in arachidonic acid metabolism, serving as a precursor for prostaglandin synthesis 2. In reproductive biology, HSD17B12 is broadly expressed in ovarian tissues and is essential for female fertility, as haploinsufficiency in mice results in subfertility, defective meiotic arrest, and reduced prostaglandin levels 2. Additionally, HSD17B12 can contribute to testosterone biosynthesis in mice, compensating for HSD17B3 deficiency 3. The enzyme demonstrates clinical significance across multiple disease contexts: it is upregulated in type 2 diabetes pancreatic islets 4, shows increased expression in high-grade ovarian cancers correlating with COX-2 expression 5, and genetic variants are associated with neuroblastoma risk through effects on lipid metabolism 6 and head/neck cancer susceptibility 7. These findings highlight HSD17B12's multifaceted roles in lipid metabolism, steroid biosynthesis, and disease pathogenesis.

Sources cited
1
HSD17B12 catalyzes 3-ketoacyl-CoA reduction in fatty acid elongation pathway
PMID: 30508570
2
HSD17B12 is involved in arachidonic acid metabolism and prostaglandin synthesis, essential for female fertility
PMID: 27490311
3
HSD17B12 contributes to testosterone biosynthesis in mice
PMID: 40336300
4
HSD17B12 is upregulated in type 2 diabetes pancreatic islets
PMID: 32340285
5
HSD17B12 expression increases in high-grade ovarian cancers and correlates with COX-2
PMID: 29324448
6
Genetic variants in HSD17B12 are associated with neuroblastoma risk through lipid metabolism
PMID: 40525640
7
HSD17B12 variants are associated with head and neck cancer susceptibility
PMID: 35404482
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.47Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
hypertensionOpen Targets
0.40Weak
essential hypertensionOpen Targets
0.37Weak
gastroesophageal reflux diseaseOpen Targets
0.35Weak
secondary malignant neoplasmOpen Targets
0.35Weak
heart failureOpen Targets
0.34Weak
obesityOpen Targets
0.33Weak
cardiovascular diseaseOpen Targets
0.31Weak
deficiency anemiaOpen Targets
0.29Weak
Increased blood pressureOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.28Weak
congestive heart failureOpen Targets
0.27Weak
metabolic syndromeOpen Targets
0.26Weak
smoking initiationOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FADS1Protein interaction100%SCDProtein interaction100%ELOVL4Protein interaction100%TECRProtein interaction100%DHRS11Protein interaction100%HACD3Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Brain
96%
Heart
80%
Lung
64%
Ovary
46%
Bone Marrow
43%
Gene Interaction Network
Click a node to explore
HSD17B12FADS1SCDELOVL4TECRDHRS11HACD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53GQ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.45–1.31]
RankingsWhere HSD17B12 stands among ~20K protein-coding genes
  • #2,522of 20,598
    Most Researched174 · top quartile
  • #13,784of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedHSD17B12
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Identification of comorbid genes between type 2 diabetes and migraine through peripheral blood single-cell and Mendelian randomization analysis.
PMID: 40596821
J Headache Pain · 2025
1.00
2
An Integrative Phenotype-Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies
PMID: 32340285
Genes (Basel) · 2020
0.90
3
The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility.
PMID: 27490311
Endocrinology · 2016
0.80
4
The lipid-metabolic enzyme HSD17B12 drives lysosomal degradation of PD-L1 potentiating anti-tumor immunity in a mouse model.
PMID: 41592073
PLoS Biol · 2026
0.72
5
The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism.
PMID: 40525640
Adv Sci (Weinh) · 2025
0.70