ITGA7
Chr 12ARintegrin subunit alpha 7
Integrin alpha-7 functions as a laminin receptor that is essential for skeletal muscle fiber anchorage, structural integrity, and myoblast migration during muscle development. Mutations cause autosomal recessive congenital muscular dystrophy due to ITGA7 deficiency, presenting in early infancy with muscle weakness and developmental delays. This gene is highly constrained against loss-of-function mutations, indicating its critical importance for normal muscle function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ITGA7 · 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