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CHST3

Chr 10q22.1

carbohydrate sulfotransferase 3

Aliases:
C6ST, C6ST1
MANE:
ENST00000373115.5
OMIM: 603799 ↗NCBI: 9469 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital disorders of glycosylation

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    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

  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • spondyloepiphyseal dysplasia with congenital joint dislocations

    0.81

  • CHST3-related skeletal dysplasia

    0.70

  • Back pain

    0.43

  • osteoarthritis, hip

    0.42

  • vertebral column disorder

    0.40

  • Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

    0.37

  • total hip arthroplasty

    0.36

  • vertebral disorder

    0.35

  • Low back pain

    0.35

  • medical procedure

    0.35

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

Protein function (UniProt)

Carbohydrate sulfotransferase 3

Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:9883891). Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices (PubMed:9714738). Catalyzes with a lower efficiency the sulfation of Gal residues of keratan sulfate, another glycosaminoglycan (PubMed:9714738). Can also catalyze the sulfation of the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides (By similarity). May play a role in the maintenance of naive T-lymphocytes in the spleen (By similarity)

Diseases associated with CHST3

Curated MONDO disease pages that list CHST3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.