CASD1
Chr 7CAS1 domain sialic acid O acetyltransferase 1
Also known as: C7orf12, Cas1, Cas1p, NBLA04196, SOAT
CASD1 encodes an N-acetylneuraminate 9-O-acetyltransferase that catalyzes the biosynthesis of O-acetylated sialoglycans including gangliosides O-AcGD3 and O-AcGD2, which are critical for cell-cell interactions and neural function. The gene is highly constrained against loss-of-function variants (LOEUF 0.435), suggesting mutations would be deleterious, though no specific human disease phenotype has been established yet. Any associated disorder would likely follow autosomal recessive inheritance given the gene's tolerance to heterozygous loss-of-function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CASD1 · 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 →External Resources
Links to major genomics databases and tools