HSD3B7
Chr 16ARhydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Also known as: CBAS1, PFIC4, SDR11E3
The protein functions as a 3-beta-hydroxysteroid dehydrogenase that catalyzes early steps in bile acid synthesis from cholesterol and is localized to the endoplasmic reticulum membrane. Mutations cause congenital bile acid synthesis defect, which presents as neonatal cholestasis and progressive liver disease in early infancy. The condition follows autosomal recessive inheritance and the gene shows low constraint to loss-of-function variation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
237 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 15 | 1 | 12 | 0 | 28 |
Likely Pathogenic | 11 | 0 | 3 | 0 | 14 |
VUS | 3 | 96 | 14 | 4 | 117 |
Likely Benign | 0 | 5 | 10 | 33 | 48 |
Benign | 0 | 4 | 8 | 4 | 16 |
Conflicting | — | 11 | |||
| Total | 29 | 106 | 47 | 41 | 234 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HSD3B7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools