Disease-gene associations mined from literature

Literature associating CHPF and Coffin-Siris syndrome 2

CHPF [ENSP00000243776]

Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II; 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. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.

Synonyms:  CHPF,  F8W6H2,  Q8IZ52,  F8W6H2p,  hF8W6H2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM