otoferlin (Fer-1-like protein 2, OTOF, FER1L2)

Function

• role in Ca+2-triggered synaptic vesicle-plasma membrane fusion (putative)

Structure

• belongs to the ferlin family
• contains 4 C2 domains

Compartment

membrane

Alternative splicing

named isoforms=4

Expression

• isoform 1 & 3 are found in adult brain
• isoform 2 is expressed in fetus & in adult brain, heart, placenta, skeletal muscle & kidney

Pathology

• defects in OTOF are the cause of nonsyndromic autosomal recessive deafness 9

More general terms

• membrane protein

Database

• OMIM: https://mirror.omim.org/entry/601071
• OMIM: https://mirror.omim.org/entry/603681
• UniProt: http://www.uniprot.org/uniprot/Q9HC10.html