Gene Symbol | LHFPL5 |
Entrez Gene ID | 222662 |
Full Name | LHFPL tetraspan subfamily member 5 |
Synonyms | DFNB67,TMHS,dJ510O8.8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 67, 610265 (3) |