Otof - otoferlin

Enables AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in synaptic vesicle priming. Located in endoplasmic reticulum; presynaptic active zone membrane; and synaptic vesicle membrane. Is expressed in brain; pons mantle layer; and rest of cerebellum ventricular layer. Used to study autosomal recessive nonsyndromic deafness 9. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin). [provided by Alliance of Genome Resources, Apr 2022]