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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CHSY1
chondroitin sulfate synthase 1
Chromosome 15 Β· 15q26.3
NCBI Gene: 22856Ensembl: ENSG00000131873.8HGNC: HGNC:17198UniProt: Q86X52
38PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranechondroitin sulfate proteoglycan biosynthetic processextracellular regionglucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activitytemtamy preaxial brachydactyly syndromebrachydactylyopen-angle glaucomagenetic disorder
✦AI Summary

CHSY1 (chondroitin sulfate synthase 1) is a bifunctional glycosyltransferase that catalyzes chondroitin sulfate chain polymerization through sequential addition of glucuronic acid and N-acetylgalactosamine residues 1. The enzyme functions as a heterodimeric complex with CHPF or CHPF2 cofactors, which primarily provide stabilizing roles while CHSY1 maintains enzymatic activity 1. In skeletal development, CHSY1 negatively regulates osteogenesis through BMP signaling inhibition, maintaining chondrocyte differentiation and extracellular matrix production 2. CHSY1 deficiency reduces matrix production and promotes cartilage hypertrophy markers, exacerbating osteoarthritis progression 2. During neuronal development, astrocyte-derived CHSY1 produces chondroitin sulfate-glycosaminoglycans that inhibit dendritic arborization 3. Clinically, CHSY1 is upregulated in multiple cancers with protumoral effects. In colorectal cancer liver metastasis, CHSY1 promotes CD8+ T cell exhaustion via succinate metabolism activation and PD-L1 upregulation 4. Similar tumor-promoting roles occur in gastric cancer, where CHSY1 knockdown inhibits proliferation and migration 5. Germline CHSY1 loss-of-function mutations cause Temtamy preaxial brachydactyly syndrome, an autosomal recessive disorder with skeletal, craniofacial, and developmental abnormalities 67. CHSY1 translation is regulated by RNA G-quadruplex structures in its 5'-UTR and polyamines 8.

Sources cited
1
CHSY1 forms heterodimeric complexes with CHPF/CHPF2 for chondroitin sulfate polymerization; CHSY1 has bifunctional glycosyltransferase activity while cofactors provide stabilization
PMID: 41298522
2
CHSY1 deficiency reduces extracellular matrix production, promotes cartilage hypertrophy markers, and aggravates osteoarthritis through BMP signaling upregulation
PMID: 35390446
3
Astrocyte CHSY1 produces chondroitin sulfate-glycosaminoglycans that inhibit neuronal dendritic arborization; ethanol reduces CHSY1 translation in astrocytes
PMID: 40192069
4
CHSY1 is overexpressed in colorectal cancer and liver metastases; promotes CD8+ T cell exhaustion via succinate metabolism and PD-L1 upregulation
PMID: 37749638
5
CHSY1 is upregulated in gastric cancer and acts as tumor promoter; CHSY1 knockdown inhibits proliferation and migration
PMID: 34412565
6
CHSY1 mutations cause Temtamy preaxial brachydactyly syndrome, an autosomal recessive developmental disorder
PMID: 24269551
7
CHSY1 deficiency in zebrafish results in craniofacial defects and reduced skeletal development, supporting role in human congenital disorders
PMID: 35192612
8
CHSY1 translation is regulated by RNA G-quadruplex structures in the 5'-UTR; polyamines stimulate CHSY1 synthesis through G-quadruplex unfolding
PMID: 30401686
Disease Associationsβ“˜21
temtamy preaxial brachydactyly syndromeOpen Targets
0.79Strong
brachydactylyOpen Targets
0.46Moderate
open-angle glaucomaOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.42Moderate
lumbar disc herniationOpen Targets
0.33Weak
Palmar FibromatosisOpen Targets
0.33Weak
Abnormal erythrocyte morphologyOpen Targets
0.32Weak
glaucomaOpen Targets
0.32Weak
prostate carcinomaOpen Targets
0.32Weak
arterial disorderOpen Targets
0.32Weak
capillary disorderOpen Targets
0.31Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
immune system diseaseOpen Targets
0.14Weak
cervicitisOpen Targets
0.13Weak
Hearing impairmentOpen Targets
0.11Weak
Coxa VaraOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Absent tibia - polydactylyOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
Temtamy preaxial brachydactyly syndromeUniProt
Pathogenic Variants7
NM_014918.5(CHSY1):c.96del (p.Glu33fs)Pathogenic
Temtamy preaxial brachydactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 33
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 475
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter)Pathogenic
Temtamy preaxial brachydactyly syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 69
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)Pathogenic
Temtamy preaxial brachydactyly syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 19
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)Pathogenic
Temtamy preaxial brachydactyly syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 539
NM_014918.5(CHSY1):c.321-3C>GPathogenic
Temtamy preaxial brachydactyly syndrome
β˜†β˜†β˜†β˜†2010
NM_014918.5(CHSY1):c.14del (p.Gly5fs)Pathogenic
Temtamy preaxial brachydactyly syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 5
View on ClinVar β†—
Related Genes
B4GALNT1Protein interaction99%CSGALNACT2Protein interaction94%CSGALNACT1Protein interaction93%B4GALT2Protein interaction79%CHPFProtein interaction68%CHSY3Protein interaction65%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
68%
Brain
65%
Ovary
49%
Heart
38%
Liver
19%
Gene Interaction Network
Click a node to explore
CHSY1B4GALNT1CSGALNACT2CSGALNACT1B4GALT2CHPFCHSY3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86X52
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.22 [0.14–0.36]
RankingsWhere CHSY1 stands among ~20K protein-coding genes
  • #10,449of 20,598
    Most Researched38
  • #3,236of 5,498
    Most Pathogenic Variants7
  • #1,593of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedCHSY1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CHSY1 promotes CD8
PMID: 37749638
J Exp Clin Cancer Res Β· 2023
1.00
2
Structural basis for human chondroitin sulfate chain polymerization.
PMID: 41298522
Nat Commun Β· 2025
0.90
3
CHSY1 is upregulated and acts as tumor promotor in gastric cancer through regulating cell proliferation, apoptosis, and migration.
PMID: 34412565
Cell Cycle Β· 2021
0.80
4
Chsy1 deficiency reduces extracellular matrix productions and aggravates cartilage injury in osteoarthritis.
PMID: 35390446
Gene Β· 2022
0.70
5
Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.
PMID: 35192612
PLoS Genet Β· 2022
0.60