CHST11
Function
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. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor.
Involvement in disease
A chromosomal aberration involving CHST11 is found in B-cell chronic lymphocytic leukemias. Translocation t(12;14)(q23;q32) with IgH.
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
OCBMD
An autosomal recessive disorder characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated; required for activity and stability.
Sequence Similarities
Belongs to the sulfotransferase 2 family.
Tissue Specificity
Widely expressed. Highly expressed in spleen, thymus, bone marrow, peripheral blood leukocytes, lymph node, heart, brain, lung and placenta.
Cellular localization
- Golgi apparatus membrane
- Single-pass type II membrane protein
Alternative names
Carbohydrate sulfotransferase 11, Chondroitin 4-O-sulfotransferase 1, Chondroitin 4-sulfotransferase 1, C4S-1, C4ST-1, C4ST1, CHST11