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]
Function:
Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
Subcellular Location:
Nucleus.
Tissue Specificity:
Seems to be expressed at a low level.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.
Similarity:
Contains 1 T-box DNA-binding domain.
SWISS:
Q9Y458
Gene ID:
50948
Database links:
Entrez Gene: 50945 Human
Entrez Gene: 245572 Mouse
Entrez Gene: 302369 Rat
Omim: 300307 Human
SwissProt: Q9Y458 Human
SwissProt: Q8K402 Mouse
Unigene: 374253 Human
Unigene: 137011 Mouse
Unigene: 109981 Rat
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