Gene: CTBP1

Alternate names for this Gene: BARS|HADDTS

Gene Summary: This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: C-terminal binding protein 1

Type of Gene: protein-coding

Gene: CTBP1-AS

Alternate names for this Gene:

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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.