| Carbohydrate Sulfotransferase 14 | |
|---|---|
| Gene Symbol | CHST14 |
| Full Name | Carbohydrate Sulfotransferase 14 |
| Chromosome | 19p13.12 |
| NCBI Gene ID | [5657](https://www.ncbi.nlm.nih.gov/gene/5657) |
| OMIM | [608429](https://www.omim.org/entry/608429) |
| Ensembl ID | ENSG00000110876 |
| UniProt ID | [Q8IWW4](https://www.uniprot.org/uniprot/Q8IWW4) |
| Protein ClassSulfotransferase | |
| Associated Diseases | Ehlers-Danlos Syndrome (musculocontractural), Wound Healing Disorders |
CHST14 (Carbohydrate Sulfotransferase 14), also known as D4ST1 (Dermatan 4-O-sulfotransferase 1), is a crucial enzyme in the biosynthesis of dermatan sulfate proteoglycans. Located on chromosome 19p13.12 with NCBI Gene ID 5657, CHST14 catalyzes the transfer of sulfate groups from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the C4 position of the N-acetylgalactosamine (GalNAc) residue in dermatan sulfate chains[@migake2010][1].
CHST14 has attracted attention in connective tissue biology due to its essential role in extracellular matrix assembly and its involvement in musculocontractural Ehlers-Danlos syndrome (MC-EDS). Recent research also suggests potential roles in neural development and neuroplasticity through modulation of chondroitin/dermatan sulfate proteoglycans[2][3].
The CHST14 gene spans approximately 14 kb on chromosome 19p13.12 and consists of 3 exons. The gene produces a single transcript encoding a 424-amino acid protein with a molecular weight of approximately 48 kDa.
The CHST14 protein contains:
CHST14 transfers sulfate groups in a stereospecific manner:
CHST14 exhibits broad but specific expression:
| Tissue | Expression Level | Function |
|---|---|---|
| Skin | Very high | Dermatan sulfate synthesis |
| Blood vessels | High | Vascular ECM |
| Cartilage | High | Proteoglycan assembly |
| Brain | Moderate | Neural development |
| Lung | Moderate | Connective tissue |
| Fetal tissues | High | Development |
In the central nervous system, CHST14 is expressed in:
CHST14 is essential for dermatan sulfate chain modification[4][5]:
CHST14 contributes to ECM organization:
CHST14 plays roles in neural systems[2:1][6]:
CHST14 mutations cause MC-EDS[7][8]:
CHST14 is implicated in tissue repair[9]:
While not a primary cause, CHST14 may influence[10]:
CHST14 shows potential as a biomarker:
Targeting CHST14 could provide benefits:
| Approach | Rationale | Status |
|---|---|---|
| Enzyme replacement | Restore function | Experimental |
| Gene therapy | Increase expression | Preclinical |
| Small molecule modulators | Enhance activity | Early development |
CHST14 interacts with:
CHST14 associates with:
Kinoshita A, et al. Dermatan sulfate biosynthesis and CHST14. J Biochem. 2012. ↩︎
Mizumoto S, et al. Dermatan sulfate in neural development. Glycobiology. 2014. ↩︎ ↩︎
Schwartz A, et al. CHST14 and glycosaminoglycan metabolism in brain. J Neurochem. 2017. ↩︎
Habichi M, et al. CHST14 and extracellular matrix assembly. Matrix Biol. 2013. ↩︎
Nakashima H, et al. D4ST1 and proteoglycan assembly. J Biol Chem. 2015. ↩︎
Shimizu K, et al. CHST14 in neuronal migration. Cereb Cortex. 2020. ↩︎
Miyake N, et al. CHST14 mutations cause musculocontractural EDS. Nat Genet. 2010. ↩︎
Hson R, et al. CHST14 deficiency and connective tissue disorders. Am J Med Genet. 2019. ↩︎
Pacini G, et al. CHST14 in wound healing and fibrosis. Wound Repair Regen. 2016. ↩︎
Sarker M, et al. Glycosaminoglycans in neurodegeneration. Neurobiol Dis. 2021. ↩︎