Disease-gene associations mined from literature

Literature associating CTBP1 and Wolf-Hirschhorn syndrome

CTBP1 [ENSP00000290921]

C-terminal binding protein 1; Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.

Synonyms:  CTBP1,  CTBP1p,  hCTBP1,  D6RAX2,  DKFZP434B0914 ...

Linkouts:  STRING  Pharos  UniProt  OMIM