LAMA2
Chr 6ARlaminin subunit alpha 2
Also known as: LAMM, MDC1A
The LAMA2 gene encodes the alpha-2 chain of laminin, an extracellular matrix protein that forms a major component of basement membranes and mediates cell attachment and organization during development. Mutations cause congenital merosin-deficient muscular dystrophy and limb-girdle muscular dystrophy type 23, both inherited in an autosomal recessive pattern. The pathogenic mechanism involves loss of function of the laminin protein, disrupting the structural integrity of muscle basement membranes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
LAMA2 · 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
Metagenomic Analysis of Bacterial Microbiota in Breast Milk
RECRUITINGClinical Trial Readiness for the Dystroglycanopathies
RECRUITINGModifying Factors in Striated Muscle Laminopathies
RECRUITINGA 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
RECRUITINGExternal Resources
Links to major genomics databases and tools