Otoferlin抗体
WebOtoferlin is a multi-C2 domain protein associated with genetic human deafness. It functions in hair-cell exocytosis. Several otoferlin C2 domains bind to Ca2+, phospholipids, & proteins. Review. OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients Web默沙东官方日前宣布，美国FDA加速批准了ADC药物Padcev和PD-1抗体Keytruda（k药）构成的组合疗法，一线治疗不适于接受含顺铂化疗的局部晚期 ... ，Decibel Therapeutics宣布欧盟委员会授予其在研AAV基因疗法DB-OTO孤儿药资格认定，用于治疗因otoferlin基因突变而导 …
Otoferlin抗体
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WebPrelingual hearing loss occurs in approximately one out of every 600 children. 1 Among cases with a genetic basis, a nonsyndromic form known as deafness, neurosensory, autosomal recessive (DFNB) represents about 75% of autosomal recessive cases. The gene otoferlin has been identified as responsible for DFNB9, a type of auditory neuropathy in … WebOtoraplin 抗体. The protein encoded by this gene is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. This gene is a member of the melanoma-inhibiting activity gene ...
Web抗Otoferlin抗体(C-12)在各种科学出版物中有2篇引文。 针对哺乳动物靶标蛋白的一抗，如抗Otoferlin 抗体 (C-12)，推荐用于检测一系列哺乳动物物种，主要有小鼠，大鼠和人物种。 … WebOtoferlin is a protein that in humans is encoded by the OTOF gene. Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of …
WebOtoferlin is a protein that in humans is encoded by the OTOF gene. Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of … WebMar 4, 2024 · AK-OTOF是一种基因疗法，主要用于修复由于otoferlin (OTOF)基因突变而导致的感觉神经性听力损失。正常的otoferlin功能使耳感觉细胞(毛细胞)在受到声音刺激时释放神经递质，从而激活听觉神经元。 没有功能性的otoferlin蛋白，耳朵接收到的听觉信号就不能传 …
WebMyoferlin (MYOF), initially identified in muscle cells, is a member of the Ferlin family involved in membrane fusion, membrane repair, and membrane trafficking. Dysfunction of this …
WebNov 7, 2016 · Share. Mutations in the otoferlin ( OTOF) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects but only at higher body temperature, and the reasons for this have been elusive until now. A study published in this issue of The EMBO Journal (Strenzke et al, 2016) adds insight ... meraki ms220 end of lifeWebMar 21, 2024 · OTOF (Otoferlin) is a Protein Coding gene. Diseases associated with OTOF include Deafness, Autosomal Recessive 9 and Otof-Related Deafness.Among its related pathways are Sensory processing of sound and Olfactory Signaling Pathway.Gene Ontology (GO) annotations related to this gene include calcium ion binding and AP-2 adaptor … meraki ms355 stacking cableWebSanta Cruz Biotechnology, Inc. offers a broad range of Otoferlin antibodies. Select Otoferlin antibodies from monoclonal antibodies listed below. View detailed Otoferlin antibody … meraki ms250-48fp switchWebPrelingual hearing loss occurs in approximately one out of every 600 children. 1 Among cases with a genetic basis, a nonsyndromic form known as deafness, neurosensory, … meraki multigig switchesWebMyoferlin (MYOF), initially identified in muscle cells, is a member of the Ferlin family involved in membrane fusion, membrane repair, and membrane trafficking. Dysfunction of this protein is associated with muscular dysfunction. Recently, a growing body of studies have identified MYOF as an oncogenic protein. It is overexpressed in a variety of human … meraki ms225 stack cableWebサンタクルスバイオテクノロジー社からotoferlin抗体を購入します。モノクローナル抗体はほとんどのタンパク質免疫原に ... meraki ms225 switchWebOtoferlin 抗体. (Otoferlin (OTOF)) 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. meraki ms350 power supply