Full name: lipoxygenase homology PLAT domains 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DFNB77; LH2D1

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

Gene size: 180260bp

Exon count: 52