SUPT20HL1
Chr XSUPT20H like 1
Also known as: FAM48B1, SPT20L
The SUPT20HL1 protein is predicted to function as a transcription coregulator and component of the SAGA complex, regulating RNA polymerase II-mediated transcription. Currently, no specific diseases have been definitively associated with mutations in this gene in established clinical databases. The clinical significance of variants in SUPT20HL1 remains to be determined.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SUPT20HL1 · 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