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- Table of Contents
Facts about Otoferlin.
Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity).
Human | |
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Gene Name: | OTOF |
Uniprot: | Q9HC10 |
Entrez: | 9381 |
Belongs to: |
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ferlin family |
AUNB1; DFNB6; DFNB9; EC 2.7.10.1; EC 4.2.1.11; FER1L2NSRD9; Fer-1-like protein 2; otoferlin
Mass (kDA):
226.753 kDA
Human | |
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Location: | 2p23.3 |
Sequence: | 2; NC_000002.12 (26457203..26558756, complement) |
Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Cell junction, synapse, presynaptic cell membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs)
PMID: 10192385 by Yasunaga S., et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
PMID: 10903124 by Yasunaga S., et al. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.