ATCAY
Chr 19ARATCAY kinesin light chain interacting caytaxin
This gene encodes a neuron-restricted protein containing a CRAL-TRIO motif that functions in cerebellar cortex development and may regulate glutaminase enzyme activity for glutamate neurotransmitter production or mitochondrial localization within neurons. Mutations cause cerebellar ataxia, Cayman type, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.446), reflecting its importance in neuronal function.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATCAY · 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