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Rabbit Anti-LOXHD1/Gold Conjugated antibody (bs-18343R-Gold)
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說(shuō) 明 書: 100ul(10nm  15nm  35nm
100ul/2980.00元
大包裝/詢價(jià)
產(chǎn)品編號(hào) bs-18343R-Gold
英文名稱 Rabbit Anti-LOXHD1/Gold Conjugated antibody
中文名稱 膠體金標(biāo)記的脂氧合酶同源結(jié)構(gòu)域1抗體
別    名 DFNB77; FLJ32670; LH2D1; Lipoxygenase homology domain-containing protein 1; Lipoxygenase homology domains 1; LOXH1_HUMAN; LOXHD1.  
規(guī)格價(jià)格 100ul/2980元 購(gòu)買        大包裝/詢價(jià)
說(shuō) 明 書 100ul(10nm  15nm  35nm
研究領(lǐng)域 細(xì)胞生物  神經(jīng)生物學(xué)  細(xì)胞膜蛋白  
抗體來(lái)源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep, )
產(chǎn)品應(yīng)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 222kDa
性    狀 Lyophilized or Liquid
濃    度 0.4mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human LOXHD1
亞    型 IgG
純化方法 affinity purified by Protein A
儲(chǔ) 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(chǎn)品介紹 background:
This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

Function:
Involved in hearing. Required for normal function of hair cells in the inner ear.

DISEASE:
Defects in LOXHD1 are the cause of deafness autosomal recessive type 77 (DFNB77) [MIM:613079]. A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.

Similarity:
Contains 14 PLAT domains.

Database links:

Entrez Gene: 125336 Human

Omim: 613072 Human

SwissProt: Q8IVV2 Human

Unigene: 345877 Human



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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