Disease-gene associations mined from literature

Literature associating CSGALNACT1 and Coffin-Siris syndrome 2

CSGALNACT1 [ENSP00000411816]

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification. Moreover, is involved in the metabolism of aggrecan (By similarity).

Synonyms:  CSGALNACT1,  E5RGB2,  E5RJB6,  E5RK93,  Q8TDX6 ...

Linkouts:  STRING  Pharos  UniProt