CHST15

Chr 10

carbohydrate sulfotransferase 15

Also known as: BRAG, GALNAC4S-6ST

NCBI Gene: 51363 ENSG00000182022 UniProt: Q7LFX5

The protein is a sulfotransferase that transfers sulfate groups to chondroitin sulfate, converting it to chondroitin sulfate E, which is a critical component of the extracellular matrix in connective tissues. Mutations cause Ehlers-Danlos syndrome musculocontractural type 1, an autosomal recessive connective tissue disorder characterized by joint contractures, skin hyperextensibility, easy bruising, and distinctive facial features that are typically apparent from birth. The gene is highly tolerant to loss-of-function variation (pLI near 0), consistent with the recessive inheritance pattern where both copies must be affected to cause disease.

ResearchSummary from RefSeq, UniProt

Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

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

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Mechanism