present in Gene: CTBP1;CTBP1-AS
present in Chromosome: 4
Position on Chromosome: 1213028
Alleles of this Variant: G/A
rs869320802 in
CTBP1;CTBP1-AS gene and
Movement Disorders
PMID 7479821 1995 Molecular cloning and characterization of a cellular phosphoprotein that interacts with a conserved C-terminal domain of adenovirus E1A involved in negative modulation of oncogenic transformation.
PMID 27094857 2016 A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
PMID 28955726 2017 De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.