LOXHD1, Official Symbol LOXHD1provided by HGNC Official Full Name lipoxygenase homology PLAT domains 1provided by HGNC Primary source HGNC:HGNC:26521 See related Ensembl:ENSG00000167210 MIM:613072; AllianceGenome:HGNC:26521 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LH2D1; DFNB77 Summary 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. [provided by RefSeq, Mar 2010] Expression Biased expression in testis (RPKM 2.9), bone marrow (RPKM 0.7) and 3 other tissues See more Orthologs mouse all