ITGB1
Chr 10integrin subunit beta 1
Also known as: CD29, FNRB, GPIIA, MDF2, MSK12, VLA-BETA, VLAB
The ITGB1 protein forms heterodimeric integrin receptors with various alpha subunits that mediate cell adhesion to extracellular matrix components including collagen, fibronectin, and laminin, playing critical roles in cell migration, tissue development, and vascular function. Mutations cause autosomal recessive congenital glanzmann thrombasthenia-like bleeding disorder and Ehlers-Danlos syndrome with bleeding diathesis, affecting hemostasis and connective tissue integrity. This gene is highly constrained against loss-of-function variants (pLI = 0.98), indicating that biallelic mutations are likely required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
113 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 | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 63 | 7 | 0 | 70 |
Likely Benign | 0 | 2 | 2 | 2 | 6 |
Benign | 0 | 0 | 3 | 2 | 5 |
| Total | 0 | 65 | 22 | 4 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ITGB1 · 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