LOXHD1
| LOXHD1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613072; MGI: 1914609; GeneCards: LOXHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.[5]
Function
This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167210 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032818 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Lipoxygenase homology domains 1". Retrieved 2012-04-10.
Further reading
- Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U (Sep 2009). "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans". American Journal of Human Genetics. 85 (3): 328–37. doi:10.1016/j.ajhg.2009.07.017. PMC 2771534. PMID 19732867.
- Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O (May 2011). "A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews". American Journal of Medical Genetics Part A. 155A (5): 1170–2. doi:10.1002/ajmg.a.33972. PMID 21465660. S2CID 22049090.
 | This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by adding missing information. |
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