“LOXHD1”的意思、由来-开放百科全书

词条

LOXHD1

释义

Function
References
Further reading

{{Infobox_gene}}Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.^[1]

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.^[1]

References

1. ^¹{{cite web | title = Entrez Gene: Lipoxygenase homology domains 1 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=125336 | accessdate = 2012-04-10 }}

{{cite journal | vauthors = 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 | title = Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans | journal = American Journal of Human Genetics | volume = 85 | issue = 3 | pages = 328–37 | date = Sep 2009 | pmid = 19732867 | pmc = 2771534 | doi = 10.1016/j.ajhg.2009.07.017 }}
{{cite journal | vauthors = Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O | title = A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews | journal = American Journal of Medical Genetics Part A | volume = 155A | issue = 5 | pages = 1170–2 | date = May 2011 | pmid = 21465660 | pmc = | doi = 10.1002/ajmg.a.33972 }}

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Function

References

Further reading