BC014194
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,718 Da
NCBI Official Full Name
Homo sapiens T-box 22, mRNA
NCBI Official Synonym Full Names
T-box 22
NCBI Official Synonym Symbols
CPX; CLPA; TBXX; ABERS; dJ795G23.1 [Similar Products]
NCBI Protein Information
T-box transcription factor TBX22
UniProt Protein Name
T-box transcription factor TBX22
UniProt Synonym Gene Names
UniProt Entry Name
TBX22_HUMAN
NCBI Summary for TBX22
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]
UniProt Comments for TBX22
TBX22: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis. Defects in TBX22 are the cause of X-linked cleft palate with ankyloglossia (CPX). 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: nucleus
Molecular Function: DNA binding; protein binding; transcription factor activity
Biological Process: multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent
Disease: Abruzzo-erickson Syndrome; Cleft Palate With Or Without Ankyloglossia, X-linked
Research Articles on TBX22
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Diseases associated with TBX22 cdna clone
Organs/Tissues associated with TBX22 cdna clone
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