protein KIAA1199 (KIAA1199)

Function

• role in hearing

Structure

• contains 4 PbH1 repeats

Alternative splicing

named isoforms=2

Expression

• weakly expressed
• in ear, specifically expressed in inner ear
• expressed in cochlea & vestibule

Pathology

• defects in KIAA1199 may be a cause of nonsyndromic sensorineural hearing loss

More general terms

• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/608366
• UniProt: http://www.uniprot.org/uniprot/Q8WUJ3.html