LOXHD1 Antibody, FITC conjugated

說明書

中文名稱：

LOXHD1兔多克隆抗體, FITC偶聯(lián)
貨號(hào)：

CSB-PA814211LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) LOXHD1 Polyclonal antibody
Uniprot No.：

Q8IVV2
基因名：

LOXHD1
別名：

LOXHD1 antibody; Lipoxygenase homology domain-containing protein 1 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Lipoxygenase homology domain-containing protein 1 protein (1101-1366AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產(chǎn)品提供形式：

Liquid
儲(chǔ)存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Involved in hearing. Required for normal function of hair cells in the inner ear.
基因功能參考文獻(xiàn)：
1. We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77. PMID: 26973026
2. Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss. PMID: 25792669
3. Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. PMID: 22341973
4. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community PMID: 21465660
5. A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews PMID: 21465660
6. A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified. PMID: 19732867
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相關(guān)疾病：

Deafness, autosomal recessive, 77 (DFNB77)
亞細(xì)胞定位：

Cell projection, stereocilium.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 26521

OMIM: 613072

KEGG: hsa:125336

STRING: 9606.ENSP00000300591

UniGene: Hs.345877

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