rs148790468
This variant is located in the CHSY1 gene.
▶ClinVar annotation
not provided; Temtamy preaxial brachydactyly syndrome; Inborn genetic diseases
View on ClinVar →About CHSY1
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]
View all CHSY1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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