Lipoma HMGIC Fusion Partner Like Protein 5 (LHFPL5)
Английские синонимы
DFNB67; Tmhs; Deafness,Autosomal Recessive 67; Tetraspan membrane protein of hair cell stereocilia
LHFPL5 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis.The deduced 216-amino acid protein contains 4 transmembrane domains. Northern blot analysis of several adult mouse tissues detected Tmhs only in brain. Immunofluorescent localization showed no significant Tmhs in brain sections, but there was intense fluorescence in the inner ear, particularly on stereocilia of both inner and outer hair cells.
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Московский государственный университет им. Ломоносова
Московский государственный университет им. Ломоносова
