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先心病相关蛋白TBX1抗体Ys-8257R
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品牌名称：$brandModel.Title型号：Ys-8257R 原产地：中国大陆 更新时间：2026/11/10 8:31:36
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详细内容
产品编号Ys-8257R
英文名称TBX1
中文名称先心病相关蛋白TBX1抗体
别 名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.
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, (predicted: Chicken, Dog, Pig, Cow, Horse, )
产品应用WB=1:500-2000 ELISA=1:5000-10000 Flow-Cyt=2ug/Test
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量43kDa
细胞定位细胞核
性 状Liquid
浓 度1mg/ml
免 疫 原KLH conjugated synthetic peptide derived from human TBX1: 165-270/398
亚 型IgG
纯化方法affinity purified by Protein A
缓 冲 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事项This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMedPubMed
产品介绍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
热门标签：先心病相关蛋白TBX1抗体,雅吉抗体
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