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HADDTS

Chr 4AD

C-terminal binding protein 1

Also known as: BARS, HADDTS

NCBI Gene: 1487 OMIM: 617915

The protein encoded by this gene is a transcriptional repressor that binds adenovirus E1A proteins and interacts with polycomb group protein complexes involved in developmental gene regulation. Mutations cause hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome with autosomal dominant inheritance. This condition affects the nervous system and dental development from early childhood.

OMIM ResearchSummary from RefSeq, OMIM

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…