Disease-gene associations mined from literature

Literature associating OTOF and autosomal recessive nonsyndromic deafness 3

OTOF [ENSP00000272371]

Fer-1-like protein 2; 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). May also play a role within the recycling of endosomes (By similarity); Deafness associated genes

Synonyms:  OTOF,  Q9HC10,  FER1L2,  Q9HC10p,  hQ9HC10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM