HSD17B8

Chr 6

hydroxysteroid 17-beta dehydrogenase 8

Also known as: D6S2245E, FABG, FABGL, H2-KE6, HKE6, KE6, RING2, SDR30C1

In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.09
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.32
OE 0.62 (0.381.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.43Z-score
OE missense 0.90 (0.781.04)
125 obs / 139.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.381.09)
00.351.4
Missense OE?0.90 (0.781.04)
00.61.4
Synonymous OE?0.84
01.21.6
LoF obs/exp: 9 / 14.4Missense obs/exp: 125 / 139.2Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HSD17B8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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