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Table 1 Genes involved in deafness

From: Focusing on the genetics of hearing: you ain't heard nothin' yet

Class of protein

Specific proteins and genes

Myosins

Myosin VI (MYO6), myosin VIIA (MYO7A), myosin XV (MYO15), and non-muscle myosin heavy chain gene 9 (MYH9)

Non-myosin cytoskeletal

Diaphanous-1 (HDIA1), Espin (Espn)

Extracellular matrix

α-tectorin (TECTA), novel protein (COCH), type XI collagen (COL11A2), and otogelin (OTOG)

Gap junctions/tight junctions

Connexin 26 (GJB2), connexin 30 (GJB6), connexin 31 (GJB3), connexin 43 (GJA1), and claudin-14 (CLDN14)

Ion channels/transporters

K+ channel (KCNQ4), K+ channel components (KVLQT1 and KCNE1), Na+-K+-Cl- co-transporter (Slc12a2), H+-ATPase B1 subunit (ATP6B1), pendrin (PDS, SLC26A4), and Ca2+ pump (ATP2B2)

Signaling molecules

Integrin α8β1 (Itga8)

Transcription factors

Pou domain transcription factors (POU4F3 and POU3F4), and Eyes absent homolog 4 (EYA4)

Others

Transmembrane serine protease (TMPRSS3) and Wolfram syndrome gene 1 (WFS1)

Unknown function

Otoferlin(OTOF), novel protein (DFNA5), stereocilin, harmonin, and transmembrane cochlear-expressed gene 1 (TMC1)

  1. This table does not provide a complete listing of all genes involved with deafness, but rather focuses on those involved with non-syndromic deafness in human and mouse, with a few exceptions. For a comprehensive and up-to-date listing, see [2].