Product Name	TBX1
Chinese Name	先心病相关蛋白TBX1抗体
Alias	CAFS; CTHM; DGCR; DGS; DORV; T box 1; T box 1 transcription factor; T box 1 transcription factor C; T box; T box protein 1; T box transcription factor TBX 1; T box transcription factor TBX1; T-box 1; T-box protein 1; T-box transcription factor TBX1; TBX 1; TBX 1C; tbx1; TBX1_HUMAN; TBX1C; Testis specific T box protein; Testis-specific T-box protein; TGA; VCFS.
literatures	Specific References  (3)     |     SL21501R has been referenced in 3 publications. [IF=6.543] Zhong Li. et al. The TBX1/miR-193a-3p/TGF-β2 Axis Mediates CHD by Promoting Ferroptosis. Oxid Med Cell Longev. 2022;2022:5130546  WB ;  Human.   PubMed:35035663 [IF=4.848] Cui Jie. et al. TBX1 Functions as a Tumor Activator in Prostate Cancer by Promoting Ribosome RNA Gene Transcription. Front Oncol. 2021 Jan;10:3235  IHC ;  Human.   PubMed:33575219 [IF=4.739] Haifang Li. et al. Peripheral IL-6/STAT3 signaling promotes beiging of white fat. Bba-Mol Cell Res. 2021 Sep;1868:119080  WB ;  Mouse.   PubMed:34174290
Research Area	Cardiovascular  Cell biology  immunology  Neurobiology
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	Mouse,  (predicted: Human, Rat, Chicken, Pig, Horse, Rabbit, )
Applications	WB=1:500-2000 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	43kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human TBX1 : 251-350/398
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. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Function: Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Subunit: Interacts with DSCR6. Subcellular Location: Nucleus. DISEASE: Note=Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life. DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Note=The disease is caused by mutations affecting the gene represented in this entry. Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders. Note=The disease is caused by mutations affecting the gene represented in this entry. Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Contains 1 T-box DNA-binding domain. SWISS: O43435 Gene ID: 6899 Database links: Entrez Gene: 6899 Human Entrez Gene: 21380 Mouse Entrez Gene: 360737 Rat Omim: 602054 Human SwissProt: O43435 Human SwissProt: P70323 Mouse Unigene: 173984 Human Unigene: 295194 Mouse Unigene: 41347 Rat
Product Picture	Sample: Skeletal muscle (Mouse) Lysate at 40 ug Primary: Anti-TBX1 (SL21501R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 43 kD Observed band size: 43 kD

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