CABP4 Antibody, HRP conjugated
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中文名稱：CABP4兔多克隆抗體, HRP偶聯(lián)
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貨號：CSB-PA004390LB01HU
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規(guī)格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) CABP4 Polyclonal antibody
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Uniprot No.：
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基因名：CABP4
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別名：CABP4 antibody; Calcium-binding protein 4 antibody; CaBP4 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Calcium-binding protein 4 protein (1-107AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：HRP
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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功能：Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages.
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基因功能參考文獻：
- CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities. PMID: 29525873
- Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up. PMID: 28635425
- In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. PMID: 27428514
- Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. PMID: 28002560
- we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2. PMID: 23714322
- Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). PMID: 22936811
- This report significantly expands on the phenotype associated with calcium binding protein 4 mutations. PMID: 20157620
- it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness PMID: 16960802
- A novel homozygous nonsense mutation in CABP4 in two siblings resulted in a phenotype with severely reduced cone function and only negligibly reduced rod function on electroretinography and psychophysical testing. PMID: 19074807
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相關疾病：Cone-rod synaptic disorder, congenital non-progressive (CRSD)
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亞細胞定位：Cytoplasm. Cell junction, synapse, presynapse.
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組織特異性：Expressed in retina and in the inner hair cells (IHC) of the cochlea.
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