DISEASES

Disease-gene associations mined from literature

Literature associating CHST6 and stromal dystrophy

CHST6 [ENSP00000328983]

Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N- acetyllactosamine structures; Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.

Synonyms:  CHST6,  CHST6p,  hCHST6,  Q9GZX3,  Q9GZX3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM