CHSY1 gene

chondroitin sulfate synthase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

From NCBI Gene:

  • Temtamy preaxial brachydactyly syndrome

From UniProt:

Temtamy preaxial brachydactyly syndrome (TPBS): A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. [MIM:605282]

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3

Molecular Location: base pairs 101,175,723 to 101,251,932 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3
  • CHSY
  • ChSy-1
  • CSS1
  • TPBS