SCYL1
Chr 11ARSCY1 like pseudokinase 1
This protein functions as a transcriptional regulator that activates telomerase reverse transcriptase and DNA polymerase beta genes, and regulates COPI-mediated retrograde protein traffic between the Golgi apparatus and endoplasmic reticulum. Mutations cause spinocerebellar ataxia, autosomal recessive 21, which follows autosomal recessive inheritance. The gene shows relatively low constraint to loss-of-function variation (pLI near zero, LOEUF 0.677).
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCYL1 · 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
External Resources
Links to major genomics databases and tools