耳聋相关蛋白NSRD9抗体
规格：1mg/1ml
英文名： Otoferlin
别名： AUNB1; Deafness, autosomal recessive 9; DFNB6; DFNB9; Fer 1 like protein 2; Fer-1-like protein 2; FER1L2; NSRD9; Otof; OTOF_HUMAN; Otoferlin.
分子量： 227kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Otoferli
交叉反应：Human, Mouse, Rat,
细胞定位：细胞浆
耳聋相关蛋白NSRD9抗体产品介绍：background: Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs).耳聋相关蛋白NSRD9抗体 May also play a role within the recycling of endosomes. Subcellular Location: Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Basolateral cell membrane. Endoplasmic reticulum membrane. Cell membrane. Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells. Tissue Specificity: Isoform 1 and isoform 3 are found in ***** brain. Isoform 2 is expressed in the fetus and in ***** brain, heart, placenta, skeletal muscle and kidney. DISEASE: Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in OTOF are a cause of non-syndromic auditory neuropathy autosomal recessive (NSRAN)耳聋相关蛋白NSRD9抗体 [MIM:601071]. NSRAN is a form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases NSRAN phenotype can be temperature sensitive. Similarity: Belongs to the ferlin family. Contains 4 C2 domains. Database links: Entrez Gene: 9381 Human Entrez Gene: 83762 Mouse Entrez Gene: 84573 Rat Omim: 603681 Human SwissProt: Q9HC10 Human SwissProt: Q9ESF1 Mouse SwissProt: Q9ERC5 Rat Unigene: 91608 Human Unigene: 244502 Mouse Unigene: 223267 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
耳聋相关蛋白NSRD9抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 发育生物学 神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid