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BTHLM1A
Chr 21ADcollagen type VI alpha 1 chain
Also known as: BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A
The protein encoded by this gene is the alpha 1 subunit of type VI collagen, which forms heterotrimers that are major structural components of microfibrils in the extracellular matrix. Mutations cause Bethlem myopathy 1A, an autosomal dominant muscle disorder. This gene has an associated GeneReviews entry providing comprehensive clinical guidance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BTHLM1A?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BTHLM1A · 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 →No publications found for BTHLM1A
External Resources
Links to major genomics databases and tools