Transmembrane protein 132E (TMEM132E)

Transmembrane protein 132E (TMEM132E) is a widely expressed type I transmembrane protein highly expressed in brain and inner ear tissues, particularly in inner hair cells, where it is implicated in structural and functional regulation of neurons and hair cell development[1][2][3]. Variants in TMEM132E are linked to autosomal recessive nonsyndromic hearing impairment (ARNSHI, DFNB99), and its main molecular function appears to involve connecting the extracellular matrix to the intracellular actin cytoskeleton through extracellular immunoglobulin-like and cohesion domains[1]. The precise molecular mechanism and additional physiological roles are under investigation, but it is not classified as a receptor, channel, enzyme, or classical drug target[2][5][3]. It may play a role in protein trafficking and membrane organization as suggested by some studies[6], and is used primarily as a genetic biomarker in hereditary deafness[1][3]. There are no known approved drugs targeting TMEM132E.

Other names

TMEM132EDFNB99Deafness, autosomal recessive 99 proteinTransmembrane protein family 132EENSG00000181291 (Ensembl)Q6IEE7 (UniProt)