NP_001103348.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
T-box transcription factor TBX22 isoform 1
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; transcription factor activity
Biological Process: transcription, DNA-dependent; regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent
Disease: Cleft Palate With Or Without Ankyloglossia, X-linked; Abruzzo-erickson Syndrome
Product References and Citations for anti-TBX22 antibody
Laugier-Anfossi F.,et al.Gene 255:289-296(2000). Braybrook C.,et al.Nat. Genet. 29:179-183(2001). Ross M.T.,et al.Nature 434:325-337(2005). Mural R.J.,et al.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. Pauws E.,et al.Clin. Genet. 83:352-358(2013).
Research Articles on TBX22
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Products associated with anti-TBX22 antibody
Diseases associated with anti-TBX22 antibody
Organs/Tissues associated with anti-TBX22 antibody
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