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货号： bs-12321R-PE-Cy7 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-12321R-PE-Cy7
- 英文名称
- Anti-TCTN3/PE-Cy7
- 中文名称
- PE-Cy7标记的结构蛋白家族3抗体
- 别 名
- C10orf61; Chromosome 10 open reading frame 61; DKFZP564D116; TCTN3; TECT3_HUMAN; Tectonic 3; Tectonic 3 precursor; Tectonic family member 3; Tectonic-3; TECT3; UNQ1881/PRO4324; PSEC0041.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 细胞生物 细胞凋亡 生长因子和激素
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat, Chicken, Dog, Cow, Rabbit, Sheep,
- 产品应用
- ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
- 分 子 量
- 64kDa
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human TCTN3/TECT3
- 亚 型
- IgG
- 纯化方法
- affinity purified by Protein A
- 储 存 液
- 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
- 保存条件
- Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
- 产品介绍
- background:
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].
Function:
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway
Subunit:
Part of the tectonic-like complex (also named B9 complex) (By similarity).
Subcellular Location:
Membrane; Single-pass type I membrane protein (Potential).
DISEASE:
Defects in TCTN3 are the cause of orofaciodigital syndrome 4 (OFD4) [MIM:258860]. A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.
Defects in TCTN3 are the cause of Joubert syndrome 18 (JBTS18) [MIM:614815]. A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect. Note=TCTN3-mutated fibroblasts from JBTS18 patients fail to respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to reduced Shh signaling (PubMed:22883145).
Similarity:
Belongs to the tectonic family.
Database links:Entrez Gene: 26123Human
Entrez Gene: 67590Mouse
Entrez Gene: 309486Rat
SwissProt: Q6NUS6Human
SwissProt: Q8R2Q6Mouse
Unigene: 438991Human
Unigene: 374056Mouse
Unigene: 60758Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.