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Product Name TBX22 Chinese Name TBX22蛋白抗体 Alias ABERS; CLPA; CPX; D230020M15Rik; dJ795G23.1; T box 22; T box protein 22; T box transcription factor TBX22; T-box protein 22; T-box transcription factor TBX22; Tbx22; TBX22_HUMAN; TBXX. Research Area Developmental biology transcriptional regulatory factor Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 58kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human TBX22: 1-100/520 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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
Omim: 300307 Human
SwissProt: Q9Y458 Human
SwissProt: Q8K402 Mouse
Unigene: 374253 Human
Unigene: 137011 Mouse
Unigene: 109981 Rat
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