产品货号 : mlR20404
英文名称 : Alx1
中文名称 : 软骨蛋白1抗体
别 名 : ALX homeobox 1; ALX homeobox protein 1; ALX1; ALX1_HUMAN; CART 1; CART-1; CART1; Cartilage homeoprotein 1.
研究领域 : 细胞生物 发育生物学 干细胞 表观遗传学
抗体来源 : Rabbit
克隆类型 : Polyclonal
交叉反应 : Human, Mouse, Rat, Dog, Cow, Horse, Rabbit,
产品应用 : ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 (石蜡切片需做抗原修复)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 : 37kDa
细胞定位 : 细胞核
性 状 : Lyophilized or Liquid
浓 度 : 1mg/ml
免 疫 原 : KLH conjugated synthetic peptide derived from human Alx1:231-326/326
亚 型 : IgG
纯化方法 : affinity purified by Protein A
储 存 液 : Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
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.
PubMed : PubMed
产品介绍background:
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008].
Function:
Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.
Subunit:
Interacts (via homeobox domain) with EP300.
Subcellular Location:
Nucleus.
Tissue Specificity:
Cartilage and cervix tissue.
Post-translational modifications:
Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation activity.
DISEASE:
Defects in ALX1 are the cause of frontonasal dysplasia type 3 (FND3) [MIM:613456]. The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
Similarity:
Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.
SWISS:
Q15699
Gene ID:
8092
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.