Browse All / Genes / TBP

TBP

TATA-box binding protein
4 disorders 2 untyped 1 no genetic record 1 modifier 6q27 gene with protein product
HGNC:11588MonarchNCBI Gene 6908ENSG00000112592UniProt P20226OMIM 600075

Previous symbols: GTF2D1, SCA17. Aliases: TFIID, TBP1.

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
Spinocerebellar Ataxia 48 modifier germline
mechanism: TBP Intermediate Repeat Expansion as a Genetic Modifier
Autosomal Dominant Cerebellar Ataxia Type I untyped
Representative SCA17 coding CAG/CAA polyglutamine expansion
mechanism: Polyglutamine Proteotoxicity
Spinocerebellar ataxia type 17 untyped
CAG/CAA polyglutamine repeat expansion
mechanism: Polyglutamine-expanded TBP disrupts transcriptional programs
Autosomal Dominant Cerebellar Ataxia no genetic record
mechanism: Coding Polyglutamine Repeat Expansion; Expanded Polyglutamine Protein
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.