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. Author manuscript; available in PMC: 2013 Jun 1.
Published in final edited form as: Hear Res. 2011 Dec 13;288(1-2):89–99. doi: 10.1016/j.heares.2011.12.003

Table 1.

Mutations in actin and actin-binding proteins cause nonsyndromic hearing loss and Usher syndrome in humans.

Gene Hearing loss locus MIMa Protein Function
ACTG1 DFNA20/26 102560 Cytoplasmic γ-actin Cytoskeleton
TRIOBP DFNB28 609823 TRIOBP Actin-bundler
ESPN DFNB36 609006 Espin Actin-crosslinker
DIAPH1 DFNA1 602121 Diaphanous 1 Actin cap/nucleator
DIAPH3 AUNA1 609129 Diaphanous 3 Actin cap/nucleator
USH1C DFNB18, USH1C 605242 Harmonin b Scaffold
RDX DFNB24 611022 Radixin Scaffold
MYO7A DFNB2, DFNA11, USH1B 600060, 601317, 276900 Myosin 7a Actin-activated motor
MYO15A DFNB3 600316 Myosin 15a Actin-activated motor
MYO3A DFNB30 606808 Myosin 3a Actin-activated motor
MYO6 DFNB37, DFNA22 607821, 606346 Myosin 6 Actin-activated motor
MYO1A DFNA48 607841 Myosin 1a Actin-activated motor
MYH14 DFNA4 608568 Myosin heavy chain 14 Actin-activated motor
MYH9 DFNA17 603622 Myosin heavy chain 9 Actin-activated motor
CDH23 DFNB12, USH1D 601386, 601067 Cadherin 23 Tip-link componentb
PDCH15 DFNB23, USH1F 609533, 602083 Protocadherin 15 Tip-link componentb
GRXCR1 DFNB25 613283 Glutaredoxin, cysteine-rich 1 Predicted actin-association
SMPX DFNX4 300066 Small muscle protein, X-linked Predicted actin-association
TPRN DFNB79 613307 Taperin Predicted actin-association
a

Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/omim).

b

Indirect interaction with actin through a complex of proteins.