TBX22 gene

T-box 22

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

From NCBI Gene:

  • Abruzzo Erickson syndrome
  • Cleft palate X-linked

From UniProt:

Abruzzo-Erickson syndrome (ABERS): A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. [MIM:302905]

Cleft palate with or without ankyloglossia, X-linked (CPX): 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. [MIM:303400]

Cytogenetic Location: Xq21.1, which is the long (q) arm of the X chromosome at position 21.1

Molecular Location: base pairs 80,014,730 to 80,035,828 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq21.1, which is the long (q) arm of the X chromosome at position 21.1
  • ABERS
  • CLPA
  • CPX
  • dJ795G23.1
  • TBXX