CHST6

Chr 16q23.1

carbohydrate sulfotransferase 6

MANE:: ENST00000332272.9

OMIM: 605294 ↗NCBI: 4166 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CHST6 · Q9GZX3

v62025-08-01

Predicted Aligned Error matrix for CHST6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

395 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)11%
Low(50–70)3%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Corneal abnormalities
BIALLELIC, autosomal or pseudoautosomal
Corneal dystrophy
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

macular corneal dystrophy
0.87
aortic stenosis
0.31
hereditary disease
0.19
alopecia areata
0.17
medical procedure
0.11
aneurysm
0.11
Fuchs endothelial corneal dystrophy
0.10
posterior polymorphous corneal dystrophy
0.10
retinitis pigmentosa
0.10
early-onset non-syndromic cataract
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Carbohydrate sulfotransferase 6

Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:11278593, PubMed:12218059, PubMed:17690104). Involved in sulfation of endothelial mucins such as GLYCAM1 (PubMed:11352640)