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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CSGALNACT1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
Chromosome 8 Β· 8p21.3
NCBI Gene: 55790Ensembl: ENSG00000147408.17HGNC: HGNC:24290UniProt: Q8TDX6
53PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acetylgalactosaminyltransferase activitypeptidoglycan glycosyltransferase activityglucuronosyltransferase activitychondroitin sulfate proteoglycan biosynthetic processskeletal dysplasia, mild, with joint laxity and advanced bone ageAbnormality of the skeletal systemcongenital disorder of glycosylationDesbuquois syndrome
✦AI Summary

CSGALNACT1 encodes chondroitin sulfate N-acetylgalactosaminyltransferase 1, a key glycosyltransferase that catalyzes the transfer of N-acetylgalactosamine (GalNAc) to glucuronic acid residues 1. This enzymatic activity is essential for initiating and elongating chondroitin sulfate (CS) chains, critical components of the extracellular matrix in cartilage and bone 1. CSGALNACT1 plays important roles in chondroitin chain biosynthesis, cartilage formation, and endochondral ossification 1. Beyond skeletal development, CSGALNACT1 regulates CS in perineuronal nets, which modulate synaptic plasticity and axon regeneration; knockout mice demonstrate enhanced spinal cord axon regeneration and altered ocular dominance plasticity 2. CSGALNACT1 is subject to androgen receptor control in prostate cancer, contributing to altered glycosylation patterns associated with cancer progression 3. Clinically, biallelic loss-of-function CSGALNACT1 mutations cause CSGALNACT1-congenital disorder of glycosylation, presenting as mild skeletal dysplasia with advanced bone age, joint laxity, short stature, and facial dysmorphism 14. Recent evidence suggests CSGALNACT1 acts as a proliferation driver and independent prognostic biomarker in papillary thyroid carcinoma 5. Dysregulated CSGALNACT1 expression also occurs in COPD-derived mesenchymal stromal cells, reflecting abnormal extracellular matrix modulation 6.

Sources cited
1
CSGALNACT1 catalyzes GalNAc transfer for chondroitin sulfate synthesis; biallelic loss-of-function mutations cause mild skeletal dysplasia with advanced bone age, joint laxity, and altered glycosaminoglycan levels
PMID: 31705726
2
CSGALNACT1 regulates chondroitin sulfate in perineuronal nets; knockout mice show enhanced axon regeneration after spinal cord injury and altered ocular dominance plasticity
PMID: 28987564
3
CSGALNACT1 is directly controlled by androgen receptor in prostate cancer cells and linked to synthesis of cancer-associated glycans
PMID: 28159857
4
Biallelic CSGALNACT1 frameshift mutations cause mild, non-progressive skeletal dysplasia with joint laxity in pediatric patients
PMID: 31325655
5
CSGALNACT1 is a key epithelial-specific prognostic gene in papillary thyroid carcinoma that promotes cell proliferation
PMID: 40950406
6
CSGALNACT1 is the most differentially expressed gene between COPD and control lung-derived mesenchymal stromal cells, functioning as an extracellular matrix modulating gene
PMID: 36681830
Disease Associationsβ“˜21
skeletal dysplasia, mild, with joint laxity and advanced bone ageOpen Targets
0.77Strong
Abnormality of the skeletal systemOpen Targets
0.47Moderate
congenital disorder of glycosylationOpen Targets
0.46Moderate
Desbuquois syndromeOpen Targets
0.38Weak
Desbuquois dysplasiaOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.32Weak
VertigoOpen Targets
0.29Weak
metabolic syndromeOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
hyperlipidemiaOpen Targets
0.27Weak
hypotensionOpen Targets
0.27Weak
venous thromboembolismOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
primary thrombocytopeniaOpen Targets
0.26Weak
HypoventilationOpen Targets
0.25Weak
SplenomegalyOpen Targets
0.24Weak
atopic eczemaOpen Targets
0.23Weak
rhabdomyolysisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
benign neoplasm of adrenal glandOpen Targets
0.18Weak
Skeletal dysplasia, mild, with joint laxity and advanced bone ageUniProt
Pathogenic Variants17
NM_001354483.2(CSGALNACT1):c.1043dup (p.Ser350fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 350
NM_001354483.2(CSGALNACT1):c.703G>T (p.Glu235Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 235
NM_001354483.2(CSGALNACT1):c.1228-6_1230delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_001354483.2(CSGALNACT1):c.868C>T (p.Gln290Ter)Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜…β˜†β˜†β˜†2025β†’ Residue 290
NM_001354483.2(CSGALNACT1):c.168dup (p.Tyr57fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 57
NM_001354483.2(CSGALNACT1):c.338dup (p.Glu114fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 114
NM_001354483.2(CSGALNACT1):c.490dup (p.Thr164fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 164
NM_001354483.2(CSGALNACT1):c.272_276del (p.Glu91fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 91
NM_001354483.2(CSGALNACT1):c.632_634del (p.Glu211del)Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜…β˜†β˜†β˜†2022β†’ Residue 211
NM_001354483.2(CSGALNACT1):c.184C>T (p.Gln62Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 62
NM_001354483.2(CSGALNACT1):c.229del (p.Arg77fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 77
NM_001354483.2(CSGALNACT1):c.76_77del (p.Ile26fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 26
NM_001354483.2(CSGALNACT1):c.472C>T (p.Gln158Ter)Pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜…β˜†β˜†β˜†2022β†’ Residue 158
NM_001354483.2(CSGALNACT1):c.791A>G (p.Asn264Ser)Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜…β˜†β˜†β˜†2020β†’ Residue 264
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr)Likely pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜…β˜†β˜†β˜†2020β†’ Residue 432
NM_001354483.2(CSGALNACT1):c.372del (p.His125fs)Pathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜†β˜†β˜†β˜†2020β†’ Residue 125
NC_000008.11:g.19411890_19467180delPathogenic
Skeletal dysplasia, mild, with joint laxity and advanced bone age
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
CHSY1Protein interaction93%CHPF2Protein interaction93%CHPFProtein interaction89%CHSY3Protein interaction85%CSGALNACT2Protein interaction81%B3GAT3Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
82%
Ovary
36%
Brain
23%
Lung
18%
Liver
6%
Gene Interaction Network
Click a node to explore
CSGALNACT1CHSY1CHPF2CHPFCHSY3CSGALNACT2B3GAT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TDX6
View on AlphaFold β†—
RankingsWhere CSGALNACT1 stands among ~20K protein-coding genes
  • #8,414of 20,598
    Most Researched53
  • #2,358of 5,498
    Most Pathogenic Variants17
Genes detectedCSGALNACT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
PMID: 31705726
Hum Mutat Β· 2020
1.00
2
Roles of CSGalNAcT1, a key enzyme in regulation of CS synthesis, in neuronal regeneration and plasticity.
PMID: 28987564
Neurochem Int Β· 2018
0.90
3
Glycosylation is a global target for androgen control in prostate cancer cells.
PMID: 28159857
Endocr Relat Cancer Β· 2017
0.80
4
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
PMID: 31325655
Bone Β· 2019
0.70
5
Altered volume of thalamic nuclei and genetic expression in first-episode psychotic patients, and their association with childhood adversity.
PMID: 40250785
Prog Neuropsychopharmacol Biol Psychiatry Β· 2025
0.60