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LGMDR8
Chr 9ARtripartite motif containing 32
Also known as: BBS11, HT2A, LGMD2H, LGMDR8, TATIP
This gene encodes a TRIM family protein containing zinc-binding domains (RING and B-box motifs) and a coiled-coil region that localizes to cytoplasmic bodies and the nucleus. Mutations cause limb-girdle muscular dystrophy type 8, a progressive muscle weakness disorder primarily affecting the shoulder and pelvic girdle muscles. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LGMDR8?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
LGMDR8 · 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 open access results found
External Resources
Links to major genomics databases and tools