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Rabbit Anti-SIX1/Gold Conjugated antibody (bs-17504R-Gold)
訂購熱線:400-901-9800
訂購郵箱:sales@bioss.com.cn
訂購QQ:  400-901-9800
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說 明 書: 100ul(10nm  15nm  35nm
100ul/2980.00元
大包裝/詢價
產品編號 bs-17504R-Gold
英文名稱 Rabbit Anti-SIX1/Gold Conjugated antibody
中文名稱 膠體金標記的同源盒蛋白SIX1抗體
別    名 BOS3; DFNA23; Homeobox protein SIX1; OTTHUMP00000179042; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; SIX1_HUMAN; TIP39.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul(10nm  15nm  35nm
研究領域 細胞生物  發育生物學  轉錄調節因子  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human, Mouse, Rat, Cow, Rabbit, Sheep, )
產品應用 IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 32kDa
性    狀 Lyophilized or Liquid
濃    度 0.4mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SIX1
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300.
保存條件 Store at 2-8 oC for 3-6 months. Avoid repeated freeze/thaw cycles.
產品介紹 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. 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, 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.

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.
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