LOXHD1

LOXHD1
Identifiers
Aliases	LOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1
External IDs	HomoloGene: 16947 GeneCards: LOXHD1
Gene ontology Molecular function • calcium channel activity Cellular component • cell projection • membrane • stereocilium Biological process • sensory perception of sound • detection of mechanical stimulus • calcium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	125336	n/a
Ensembl	ENSG00000167210	n/a
UniProt	Q8IVV2	n/a
RefSeq (mRNA)	NM_001145472 NM_001145473 NM_001173129 NM_001308013 NM_144612	n/a
RefSeq (protein)	NP_001138944.1 NP_001138945.1 NP_001166600.1 NP_653213.6	n/a
Location (UCSC)	Chr 18: 46.48 – 46.66 Mb	n/a
PubMed search	[1]	n/a
Wikidata

View/Edit Human

Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.^[2]

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.^[2]

References

1. "Human PubMed Reference:".
2. "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.