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FSHD3
Chr 1Digenic recessiveligand dependent nuclear receptor interacting factor 1
Also known as: C1orf103, FSHD3, HBiX1, RIF1
This protein binds nuclear retinoic acid receptors and is involved in X chromosome inactivation, localizing to centriolar satellites, telomeric chromosome regions, and the nuclear lumen. Mutations cause facioscapulohumeral muscular dystrophy 3, a progressive muscle disorder affecting facial, shoulder, and upper arm muscles. The condition follows digenic recessive inheritance, requiring mutations in two different genes to manifest disease.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FSHD3?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
FSHD3 · 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