DISEASES

Disease-gene associations mined from literature

Literature associating B3GALT6 and spondyloepimetaphyseal dysplasia

B3GALT6 [ENSP00000368496]

UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.

Synonyms:  B3GALT6,  B3GALT6p,  hB3GALT6,  Q96L58,  Q96L58p ...

Linkouts:  STRING  Pharos  UniProt  OMIM