Browse All / Genes / CTBP1

CTBP1

C-terminal binding protein 1
2 disorders 1 causative 1 susceptibility 4p16.3 gene with protein product
HGNC:2494MonarchNCBI Gene 1487ENSG00000159692UniProt Q13363OMIM 602618

Aliases: BARS.

Normal function · from ai-gene-review (Q13363, commit e7236877cf14) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome causative de novo
mechanism: CTBP1 PXDLS-Cleft Missense Variant; Reduced Corepressor Cofactor Recruitment by CtBP1
Wolf-Hirschhorn_Syndrome susceptibility
mechanism: Candidate Multigene Neuronal-Communication Dysfunction

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.