ASGR1
Chr 17asialoglycoprotein receptor 1
Also known as: ASGPR, ASGPR1, CLEC4H1, HL-1
The asialoglycoprotein receptor major subunit mediates hepatocyte endocytosis of circulating glycoproteins lacking terminal sialic acid residues, facilitating clearance of desialylated platelets and maintaining serum glycoprotein homeostasis. Biallelic ASGR1 mutations cause autosomal recessive thrombocytopenia with absent or reduced platelet glycoprotein clearance. This gene is not loss-of-function intolerant, consistent with the recessive inheritance pattern of associated disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASGR1 · 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