CHST12

Chr 7

carbohydrate sulfotransferase 12

Also known as: C4S-2, C4ST-2, C4ST2

NCBI Gene: 55501 ENSG00000136213 UniProt: Q9NRB3

The CHST12 protein is a Golgi membrane-localized sulfotransferase that catalyzes sulfate transfer to position 4 of N-acetylgalactosamine residues in chondroitin sulfate and dermatan sulfate, key proteoglycans found in cartilage and extracellular matrices. Biallelic mutations cause autosomal recessive myopathy with glycosaminoglycan storage defects, typically presenting in infancy with muscle weakness and developmental delays. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.28

LOEUF

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Mechanism

Some data sources returned errors (1)