CHST3

Chr 10AR

carbohydrate sulfotransferase 3

Also known as: C6ST, C6ST1, HSD

NCBI Gene: 9469 ENSG00000122863 UniProt: Q7LGC8 OMIM: 603799

This gene encodes a sulfotransferase that catalyzes the transfer of sulfate to chondroitin, a major proteoglycan component of cartilage and extracellular matrices. Mutations cause spondyloepiphyseal dysplasia with congenital joint dislocations, a skeletal dysplasia affecting the spine and epiphyses present from birth. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondyloepiphyseal dysplasia with congenital joint dislocationsMIM #143095

Clinical highlights

Gene-disease validity (ClinGen)

spondyloepiphyseal dysplasia with congenital joint dislocations · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.80

LOEUF

LOF

Mechanism· G2P