Transmembrane Channel Like Protein 2 (TMC2)

TMC2 is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing.In the course of a search by positional cloning for the mutational basis of forms of autosomal dominant (DFNA36) and autosomal recessive (DFNB7/11) deafness that map to the chromosome 9q13-q21 region, Kurima et al. (2002) identified a homologous gene on chromosome 20p13 with extensive sequence homology to the transmembrane cochlear-expressed gene-1 (TMC1). TMC2, as it was designated, showed 57% amino acid identity to TMC1. The amino acid sequences of TMC2 and Tmc2 of the mouse showed 83% identity.