LOXHD1

LOXHD1
Identifiers
Aliases	LOXHD1 , DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1
External IDs	OMIM: 613072; MGI: 1914609; HomoloGene: 16947; GeneCards: LOXHD1; OMA:LOXHD1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) [1] Band 18q21.1 Start 46,476,972 bp [1] End 46,657,220 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 E3 Start 77,369,654 bp [2] End 77,530,626 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm testicle gonad bone marrow cells monocyte blood apex of heart pituitary gland Top expressed in spermatocyte testicle spermatid 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 hearing detection of mechanical stimulus calcium ion transmembrane transport cellular oxidant detoxification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 125336 240411 Ensembl ENSG00000167210 ENSMUSG00000032818 UniProt Q8IVV2 C8YR32 RefSeq (mRNA) NM_001145472 NM_001145473 NM_001173129 NM_001308013 NM_144612 NM_001384474 NM_172834 RefSeq (protein) NP_001138944 NP_001138945 NP_001166600 NP_001294942 NP_653213 NP_766422 Location (UCSC) Chr 18: 46.48 – 46.66 Mb Chr 18: 77.37 – 77.53 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000167210 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032818 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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.