GLT6D1
Chr 9glycosyltransferase 6 domain containing 1
Also known as: GLTDC1, GT6M7
GLT6D1 encodes a glycosyltransferase that is part of the GT6 gene family, which in humans is primarily represented by the functional ABO blood group gene. Mutations in GLT6D1 cause autosomal recessive congenital disorder of glycosylation with severe developmental delay, microcephaly, and seizures. The gene shows tolerance to loss-of-function variants (pLI 0.12, LOEUF 1.17), consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
GLT6D1 · 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