CHSY3: Chondroitin Sulfate Synthase 3
Key enzyme in glycosaminoglycan biosynthesis and skeletal development
Gene Information Card
| Symbol | CHSY3 |
|---|---|
| Full Name | Chondroitin Sulfate Synthase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.3 |
| NCBI Gene ID | 337876 ncbi.nlm.nih.gov/gene/337876 |
| Ensembl ID | ENSG00000198121 |
| UniProt ID | Q70JA7 |
| OMIM ID | 608183 |
| HGNC ID | 21326 |
| Aliases | CHSY-3, CHSY3A, CHSY3B, CSS3 |
Description
CHSY3 encodes chondroitin sulfate synthase 3, a transmembrane glycosyltransferase involved in the biosynthesis of chondroitin sulfate, a major component of the extracellular matrix. The enzyme catalyzes the transfer of glucuronic acid and N-acetylgalactosamine to the growing chondroitin chain. CHSY3 is essential for normal skeletal development and joint function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia (multiple epiphyseal dysplasia-like phenotype) | Impaired chondroitin sulfate elongation leads to abnormal cartilage matrix | OMIM #608183; PMID: 22949511 |
| Osteoarthritis susceptibility | Altered glycosaminoglycan composition in articular cartilage | GWAS; PMID: 24879434 |
| Short stature | Defective proteoglycan synthesis in growth plate | PMID: 22949511 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cartilage | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Medium |
| HepG2 | 3.4 | Low |
| A549 | 5.6 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1672G>A (p.Gly558Arg) | Missense | Rare | Impaired catalytic activity |
| c.2143_2144del (p.Leu715fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing chondroitin sulfate synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; likely recessive loss-of-function mechanism.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015018 - galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity | • GO:0015020 - glucuronosyltransferase activity |
| • GO:0030206 - chondroitin sulfate biosynthetic process | • GO:0005794 - Golgi apparatus |
| • GO:0016021 - integral component of membrane |
Pathways
• Chondroitin sulfate/dermatan sulfate biosynthesis (Reactome R-HSA-1971475)
• Glycosaminoglycan metabolism (KEGG hsa00532)
Protein Summary
Chondroitin sulfate synthase 3 is a 775-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a glycosyltransferase domain (GT-A fold) and a stem region. The enzyme polymerizes chondroitin sulfate chains by alternating addition of glucuronic acid and N-acetylgalactosamine. Mutations cause skeletal dysplasias due to defective extracellular matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHSY3 Knockout HEK293 Cell Line | EDC90509 | Human | 337876 | Details Get a Quote |
| CHSY3 Knockout HeLa Cell Line | EDJ-KQ42130 | Human | 337876 | Details Get a Quote |
| CHSY3 Knockout HCT 116 Cell Line | EDJ-KQ40876 | Human | 337876 | Details Get a Quote |
| CHSY3 Knockout A-549 Cell Line | EDJ-KQ68046 | Human | 337876 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
