HSD17B7

Chr 1

hydroxysteroid 17-beta dehydrogenase 7

Also known as: PRAP, SDR37C1

NCBI Gene: 51478ENSG00000132196UniProt: P56937

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

ResearchGenerating clinical summary…
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.12
OE 0.68 (0.42–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.59Z-score
OE missense 0.88 (0.77–1.00)
159 obs / 181.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.42–1.16)
0≤0.351.4
Missense OE?0.88 (0.77–1.00)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 10 / 14.6Missense obs/exp: 159 / 181.3Syn Z: -0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSD17B7 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients