CHST11 Chromosome 12
Carbohydrate sulfotransferase 11
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What This Gene Does
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. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Sulfotransferases, membrane bound|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q23.3
Ensembl
ENSG00000171310
Associated Conditions (9)
CHST11-related disorder
Chondrodysplasia
clino-symphalangism
overriding digits
Brachydactyly
Synpolydactyly type 1
Osteochondrodysplasia
brachydactyly
and overlapping malformed digits
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148230565 | Health Risk | Conflicting classifications of pathogenicity | CHST11-related disorder, CHST11-related disorder |
| RS1566067709 | Health Risk | Conflicting classifications of pathogenicity | Chondrodysplasia, clino-symphalangism, overriding digits |