BSCL2
Chr 11ARADBSCL2 lipid droplet biogenesis associated, seipin
Also known as: GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17
Seipin is an endoplasmic reticulum transmembrane protein that plays a crucial role in lipid droplet formation and maturation, which are essential for lipid and energy homeostasis. Mutations cause a spectrum of disorders including congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome), progressive encephalopathy with or without lipodystrophy, distal hereditary motor neuronopathy, and Silver spastic paraplegia syndrome. The gene shows both autosomal recessive and autosomal dominant inheritance patterns depending on the specific condition.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BSCL2 · 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
External Resources
Links to major genomics databases and tools