CSGALNACT1

Chr 8p21.3

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Aliases:: CSGalNAcT-1, FLJ11264, ChGn
MANE:: ENST00000692225.2

OMIM: 616615 ↗NCBI: 55790 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CSGALNACT1 · Q8TDX6

v62025-08-01

Predicted Aligned Error matrix for CSGALNACT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.3/ 100

Confident

532 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)25%
Low(50–70)6%
Very low(< 50)5%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

skeletal dysplasia, mild, with joint laxity and advanced bone age
0.77
congenital disorder of glycosylation
0.46
Abnormality of the skeletal system
0.45
Desbuquois syndrome
0.39
alcohol drinking
0.31
Vertigo
0.28
placenta praevia
0.28
metabolic syndrome
0.28
venous thromboembolism
0.28
hyperlipidemia
0.27

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

Protein function (UniProt)

Chondroitin sulfate N-acetylgalactosaminyltransferase 1

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726). Moreover, is involved in the metabolism of aggrecan (By similarity)