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BTHLM1B
Chr 21ADARcollagen type VI alpha 2 chain
Also known as: BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
This gene encodes an alpha chain of type VI collagen, a beaded filament collagen that organizes matrix components in connective tissues through binding extracellular matrix proteins via von Willebrand Factor type A domains. Mutations cause Bethlem myopathy, a relatively mild congenital muscular dystrophy characterized by joint contractures and progressive muscle weakness. The condition follows both autosomal dominant and autosomal recessive inheritance patterns.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BTHLM1B?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
BTHLM1B · 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 BTHLM1B
External Resources
Links to major genomics databases and tools