Lipoxygenase homology domain-containing protein 1 (LOXHD1)

Lipoxygenase homology domain-containing protein 1 (LOXHD1) is a highly conserved protein composed entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, implicated in the targeting of proteins to the plasma membrane[1][3]. It is critically expressed in the mechanosensory hair cells of the inner ear, where it is required for their normal function. Mutations in the LOXHD1 gene cause DFNB77, a progressive autosomal-recessive nonsyndromic hearing loss, illustrating its essential role in auditory physiology[1][5]. Alternative splicing of this gene generates different isoforms, but its established physiological and pathological relevance is confined to hair cell function and auditory disorders, not as a typical drug target[1].

Other names

LOXHD1DFNB77LH2D1lipoxygenase homology domains 1lipoxygenase homology PLAT domains 1