trichorhinophalangeal syndrome I

Symbol

TRPS1 (may also be known as: None)

Organism

Human

Description

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

Orthologs

SymbolSpecies
Trps1 Mus musculus
Trps1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0000122 negative regulation of transcription from RNA polymerase II promoter biological_process
GO:0001501 skeletal system development biological_process
GO:0006355 regulation of transcription, DNA-dependent biological_process
GO:0006366 transcription from RNA polymerase II promoter biological_process
GO:0006607 NLS-bearing substrate import into nucleus biological_process
GO:0032330 regulation of chondrocyte differentiation biological_process
Show more GO terms