Gene Symbol: Loxhd1
Description: lipoxygenase homology domains 1
Alias: 1700096C21Rik, 4932417K07, sba, lipoxygenase homology domain-containing protein 1
Species: mouse
Products:     Loxhd1

Top Publications

  1. Schwander M, Sczaniecka A, Grillet N, Bailey J, Avenarius M, Najmabadi H, et al. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007;27:2163-75 pubmed
  2. Grillet N, Schwander M, Hildebrand M, Sczaniecka A, Kolatkar A, Velasco J, et al. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet. 2009;85:328-37 pubmed publisher
    ..We show that hearing loss in the ethylnitrosourea (ENU)-induced samba mouse line is caused by a mutation in Loxhd1. LOXHD1 consists entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains and is expressed along the ..
  3. Xiong W, Grillet N, Elledge H, Wagner T, Zhao B, Johnson K, et al. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012;151:1283-95 pubmed publisher
    ..We conclude that TMHS is an integral component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. ..