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LOXHD1 Rabbit pAb (bs-18343R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价
产品编号 bs-18343R
英文名称 LOXHD1 Rabbit pAb
中文名称 脂氧合酶同源结构域1抗体
别    名 DFNB77; FLJ32670; LH2D1; Lipoxygenase homology domain-containing protein 1; Lipoxygenase homology domains 1; LOXH1_HUMAN; LOXHD1.  
研究领域 细胞生物  神经生物学  细胞膜蛋白  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human,Mouse,Rat,Pig,Sheep,Cow,Dog,Horse)
产品应用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 222 kDa
检测分子量
细胞定位 细胞膜 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human LOXHD1: 1171-1270/1947 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 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.

SWISS:
Q8IVV2

Gene ID:
125336

Database links:

Entrez Gene: 125336 Human

Omim: 613072 Human

SwissProt: Q8IVV2 Human

Unigene: 345877 Human



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