SLC35C1
Chr 11ARsolute carrier family 35 member C1
Also known as: CDG2C, FUCT1
The protein functions as a GDP-fucose transporter in the Golgi apparatus, importing GDP-fucose from the cytoplasm into the Golgi lumen in exchange for GMP. Mutations cause congenital disorder of glycosylation type IIc, which follows autosomal recessive inheritance. This condition affects protein glycosylation and typically presents in infancy with developmental delays, seizures, and other multisystem manifestations.
Strong evidence — appropriate for clinical testing
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
SLC35C1 · 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
An Extension Study Assessing the Safety and Efficacy of AVTX-803 in Subjects With Leukocyte Adhesion Deficiency Type II
RECRUITINGClinical and Basic Investigations Into Congenital Disorders of Glycosylation
RECRUITINGExternal Resources
Links to major genomics databases and tools