TBX6 Antibody, Biotin conjugated

說明書

中文名稱：

TBX6兔多克隆抗體, Biotin偶聯(lián)
貨號：

CSB-PA023258LD01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) TBX6 Polyclonal antibody
Uniprot No.：

O95947
基因名：

TBX6
別名：

DFNB 67 antibody; DFNB67 antibody; SCDO5 antibody; T box 6 antibody; T box protein 6 antibody; T box transcription factor TBX 6 antibody; T box transcription factor TBX6 antibody; T-box protein 6 antibody; T-box transcription factor TBX6 antibody; Tbox 6 antibody; TBX 6 antibody; tbx6 antibody; TBX6_HUMAN antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human T-box transcription factor TBX6 protein (295-436AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

功能：

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia.
基因功能參考文獻：
1. TBX6 plays a role during human spine development and interacts with other key elements during the process of somitogenesis [review] PMID: 27437870
2. One patient with extensive SDV was carrying a proximal 16p11.2 microdeletion associated with a TBX6 rare missense change. One patient with a clinical diagnosis of SCD was compound heterozygous for two TBX6 rare missense changes. The three rare variants were affecting the chromatin-binding domain. Our data illustrate the variable expressivity of recessive TBX6 ranging from congenital scoliosis to spondylocostal dysostos. PMID: 27861764
3. Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). PMID: 28054739
4. Mutations of RBM8A and TBX6 are associated with disorders of the mullerian ducts. PMID: 25813282
5. Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed. PMID: 25564734
6. Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation. PMID: 23954021
7. we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family. PMID: 23335591
8. first report on single nucleotide polymorphisms of TBX6 gene in congenital scoliosis (CS) that suggests genetic variants of TBX6 gene is associated with CS in the Chinese Han population. PMID: 20228709
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相關(guān)疾病：

Spondylocostal dysostosis 5 (SCDO5)
亞細胞定位：

Nucleus.
組織特異性：

Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.
數(shù)據(jù)庫鏈接：

HGNC: 11605

OMIM: 122600

KEGG: hsa:6911

STRING: 9606.ENSP00000279386

UniGene: Hs.198301

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