LOXHD1

LOXHD1
Identifiers
Aliases	LOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1
External IDs	OMIM: 613072 HomoloGene: 16947 GeneCards: LOXHD1
Gene location (Human) Chr. Chromosome 18 (human) Band 18q21.1 Start 46,476,972 bp End 46,657,220 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm bone marrow cells monocyte blood pituitary gland putamen right lung upper lobe of left lung caudate nucleus anterior pituitary n/a More reference expression data BioGPS n/a
Gene ontology Molecular function calcium channel activity catalase activity heme binding Cellular component cell projection membrane stereocilium Biological process sensory perception of sound detection of mechanical stimulus calcium ion transmembrane transport cellular oxidant detoxification 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 NM_001384474 n/a RefSeq (protein) NP_001138944 NP_001138945 NP_001166600 NP_001294942 NP_653213 n/a Location (UCSC) Chr 18: 46.48 – 46.66 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

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

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.

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.