Gene Symbol | TBX22 |
Entrez Gene ID | 50945 |
Full Name | T-box 22 |
Synonyms | ABERS,CLPA,CPX,TBXX,dJ795G23.1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cleft palate with ankyloglossia, 303400 (3); ?Abruzzo-Erickson syndrome, 302905 (3) |