Otoferlin in brain. Otoferlin functions in hair-cell exocytosis.

Otoferlin in brain. Mutations in the OTOF gene cause one of the most frequent genetic forms of congenital deafness, DFNB9. Dec 12, 2006 · In agreement with previous studies, otoferlin expression was found in the brain and in inner and vestibular hair cells. Otoferlin mRNA and protein was, however, also detected in mature outer hair cells of low-frequency processing cochlear turns and in auditory nerve fibres. Several otoferlin C2 domains bind to Ca2+, phospholipids, and proteins. Otoferlin is expressed in multiple tissues and organs (34). Oct 2, 2019 · The size of the otoferlin molecule and its low solubility have made it difficult to study, including learning how otoferlin works differently than another neuronal calcium sensor in the brain, synaptotagmin. Mutations of the human otoferlin gene lead to an autosomal recessive nonsyndromic form of prelingual . [5][6][7] It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated with a genetic form of deafness. Otoferlin functions in hair-cell exocytosis. Here we review progress toward understanding otoferlin, a multi-C2 domain protein identified a decade ago by genetic analysis of human deafness. C2 domains A–F and the C-terminal transmembrane (TM) domains of cochlear and Here we review progress toward understanding otoferlin, a multi-C2 domain protein identified a decade ago by genetic analysis of human deafness. Several studies have demonstrated expression of otoferlin in the inner ear and brain, and suggested a role of otoferlin in Ca(2+)-trig … Otoferlin is alternatively spliced in cochlea and brain. Mar 8, 2014 · An antibody targeting syntaxin-1 applied to rat brain lysate did elicit immunoprecipitation of otoferlin with no added calcium as detected with the custom anti-otoferlin antibody (Fig. Mutations of the human otoferlin gene lead to an autosomal recessive nonsyndromic form of prelingual, sensorineural deafness (deafness autosomal recessive 9, DFNB9). 6B, lane 2, arrow). In both the earlier study and the latest one, Johnson used zebrafish to probe otoferlin’s mechanisms. Jul 19, 2023 · Otoferlin is produced mainly in the brain and inner ear (cochlea and vestibule), and in smaller amounts in other organs: the heart, liver, pancreas, kidney, and skeletal muscle (Yasunaga et al. The widespread distribution of otoferlin in neurons, nerve fibres and hair cells, and its subcellular distribution extending beyond the regions of synaptic vesicle fusion, support the idea of a more ubiquitous role of o TOF in early/recycling endosome trans‐Golgi network dynamics. Otoferlin is a protein that in humans is encoded by the OTOF gene. We would like to show you a description here but the site won’t allow us. Otoferlin appears as a globular protein when using the AlphaFold protein structure prediction Jul 19, 2023 · Although otoferlin is also present in the central nervous system, particularly in the cortex and amygdala, its role in brain tissues remains unknown. 6A, lane 3, arrow) and in the presence of 100 μ m Ca 2+ (Fig. , 2000). ri3epu tjqamfz u6i6t ch3 41ty lgpd 3ydv3 0x1u xurk mskhw1t