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BTHLM1C
Chr 2ADARcollagen type VI alpha 3 chain
Also known as: BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C
This gene encodes the alpha-3 chain of type VI collagen, a beaded filament collagen that organizes extracellular matrix components in connective tissues through binding interactions with other matrix proteins. Mutations cause Bethlem myopathy, a proximal myopathy with early childhood onset, inherited in an autosomal dominant pattern, though autosomal recessive inheritance can also occur with more severe presentations including Ullrich congenital muscular dystrophy. The condition primarily affects skeletal muscle with characteristic joint contractures and progressive muscle weakness.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BTHLM1C?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
BTHLM1C · 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 BTHLM1C
External Resources
Links to major genomics databases and tools