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EBS5B
Chr 8plectin
Also known as: EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO
Plectin is a large cytoskeletal protein that interlinks different elements of the cytoskeleton and serves as a scaffolding platform for signaling complexes, playing crucial roles in maintaining cell and tissue integrity. Mutations cause epidermolysis bullosa simplex with muscular dystrophy, characterized by skin fragility with blistering and progressive muscle weakness. This condition follows autosomal recessive inheritance.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EBS5B?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EBS5B · 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