KIF5A Antibody
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中文名稱：KIF5A兔多克隆抗體
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貨號：CSB-PA012341GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：
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別名：D12S1889 antibody; KIF 5A antibody; Kif5a antibody; KIF5A_HUMAN antibody; Kinesin family member 5A antibody; Kinesin heavy chain isoform 5A antibody; Kinesin Heavy Chain Neuron Specific antibody; Kinesin heavy chain neuron-specific 1 antibody; MY050 antibody; Neuronal kinesin heavy chain antibody; NKHC 1 antibody; NKHC antibody; SPG 10 antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human KIF5A
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity 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：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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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
相關產品
靶點詳情
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功能：Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.
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基因功能參考文獻：
- This study identified three pathogenic KIF5A mutations in Korean Charcot-Marie-Tooth neuropathy type 2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p.Leu558Pro was determined to be a novel de novo mutation. PMID: 29892902
- We conclude that reduced expression of axonal motor KIF5A may have important implications in determining axonal transport deficits and ongoing neurodegeneration in multiple sclerosis PMID: 26785938
- Kinesin family member 5A protein (Kif5A) with hereditary spastic paraplegia (HSP)-causing mutations showed a variety of significantly reduced catalytic and mechanical activities as a result of each mutation, with the shared phenotype from each that motility was significantly reduced. PMID: 28678816
- Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece. The first nonsense mutation in KIF5A was identified in HSP patient. PMID: 26374131
- De novo stop-loss frameshift variants in KIF5A result in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. PMID: 27463701
- KIF5A p.Ser974fs de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. PMID: 27414745
- Zinc ion-mediated inhibition of KIF5A activity might be one molecular cause contributing to impaired transport processes within brain and other organs in cases of zinc dyshomeostasis. PMID: 28122263
- This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. PMID: 27084214
- study describes 2 Spanish families with an adult onset complicated autosomal dominant hereditary spastic paraplegia with a mild sensory neuropathy; identified 2 novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions; both were located in the highly conserved kinesin motor domain of the protein PMID: 26403765
- Kinesin-14 blocks microtubule nucleation in yeast and reveal that this inhibition is countered by the kinesin-5 protein, Cut7.[Cut7, Pkl1] PMID: 25348260
- the novel mutation p.Leu259Gln in two siblings affected by Hereditary spastic paraplegia (HSP) complicated by deafness and in their father with a pure form of HSP. PMID: 24939576
- Combining next-generation sequencing and conventional sequencing, study confirms that KIF5A mutations can cause variable phenotypes ranging from hereditary spastic paraplegia to Charcot-Marie-Tooth disease type 2 PMID: 25008398
- Conformations of microtubule-bound human kinesin-5 motor domain were visualised at successive steps in its ATPase cycle. PMID: 24449904
- A review of the mechanism of pathogenesis involved in spastic paraplegia type 10 when KIF5A is inactivated by mutations. PMID: 22785106
- Data suggest that the impairment of the microtubule-kinesin function by alpha-synuclein oligomers drives early neurite pathology. PMID: 23744071
- This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport. PMID: 22788249
- These results provide an insight into the molecular mechanisms of KIF5A, which regulate inhibitory neural transmission and KIF5A deletion causes epilepsy. PMID: 23217743
- The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. PMID: 21623771
- Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia PMID: 21107874
- Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer. PMID: 21231887
- rs1678542 in KIF5A confers susceptibility for multiple sclerosis. PMID: 20508602
- identification of a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia PMID: 12355402
- An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity. PMID: 15452312
- novel missense mutation in the KIF5A gene in a large kindred with uncomplicated autosomal dominant hereditary spastic paraplegia with an adult age of symptom onset PMID: 16489470
- All mutations in KIF5A are single amino-acid exchanges and located in kinesin's motor or neck domain and the mutation in the neck (A361V) did not change the gliding properties in vitro. PMID: 18203753
- Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). PMID: 18245137
- In this study identified a novel missense mutation in KIF5A in an Italy family. PMID: 18500496
- The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation. PMID: 18640125
- SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France. PMID: 18853458
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相關疾病：Spastic paraplegia 10, autosomal dominant (SPG10); Myoclonus, intractable, neonatal (NEIMY)
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亞細胞定位：Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Perikaryon.
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蛋白家族：TRAFAC class myosin-kinesin ATPase superfamily, Kinesin family, Kinesin subfamily
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組織特異性：Distributed throughout the CNS but is highly enriched in subsets of neurons.
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數據庫鏈接：
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