同源盒蛋白SIX1抗体
规格：1mg/1ml
英文名： SIX1
别名： BOS3; DFNA23; Homeobox protein SIX1; OTTHUMP00000179042; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; SIX1_HUMAN; TIP39.
分子量： 32kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human SIX1
交叉反应：Human, Mouse, Rat, Cow, Rabbit, Sheep,
细胞定位：细胞核
同源盒蛋白SIX1抗体产品介绍：background: The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008] Function: May be involved in limb tendon and ligament development. Subcellular Location: Nucleus. Tissue Specificity: Specifically expressed in skeletal muscle. DISEASE: Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23) [MIM:605192]. A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear.同源盒蛋白SIX1抗体 Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients. Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate同源盒蛋白SIX1抗体, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. Similarity: Belongs to the SIX/Sine oculis homeobox family. Contains 1 homeobox DNA-binding domain. Gene ID: 6495 Database links: Entrez Gene: 6495 Human Entrez Gene: 20471 Mouse Entrez Gene: 114634 Rat Omim: 601205 Human SwissProt: Q15475 Human SwissProt: Q62231 Mouse SwissProt: Q8BSP4 Mouse Unigene: 54416 Human Unigene: 713114 Human Unigene: 4645 Mouse Unigene: 23396 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
同源盒蛋白SIX1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
研究领域：细胞生物 发育生物学 转录调节因子 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid