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.
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
HADDTS
An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects.
None
The disease is caused by variants affecting the gene represented in this entry.
The level of phosphorylation appears to be regulated during the cell cycle. Phosphorylation by HIPK2 on Ser-422 induces proteasomal degradation.
ADP-ribosylated; when cells are exposed to brefeldin A.
Sumoylation on Lys-428 is promoted by the E3 SUMO-protein ligase CBX4.
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Expressed in germinal center B-cells.
CTBP, CTBP1, C-terminal-binding protein 1, CtBP1
Proteins
Oncology
47535Da
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