Gene Symbol | TRPS1 |
Entrez Gene ID | 7227 |
Full Name | transcriptional repressor GATA binding 1 |
Synonyms | GC79,LGCR |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Trichorhinophalangeal syndrome, type I, 190350 (3); Trichorhinophalangeal syndrome, type III, 190351 (3) |