This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
Function:
Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer.
Subcellular Location:
Golgi apparatus > Golgi stack membrane.
Tissue Specificity:
Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.
Similarity:
Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
SWISS:
Q86X52
Gene ID:
22856
Database links:
Entrez Gene: 22856 Human
Entrez Gene: 269941 Mouse
Omim: 608183 Human
SwissProt: Q86X52 Human
SwissProt: Q6ZQ11 Mouse
Unigene: 110488 Human
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