Gene: LOXHD1

Alternate names for this Gene: DFNB77|LH2D1

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: lipoxygenase homology domains 1

Type of Gene: protein-coding

rs201587138 in LOXHD1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) PMID 25792669 2015 Mutations in LOXHD1 gene cause various types and severities of hearing loss.

PMID 23226338 2012 Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PMID 22975204 2012 Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 21465660 2011 A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

PMID 23897863 2013 PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

rs72913475 in LOXHD1 gene and Polybrominated biphenyl measurement PMID 28235828 2017 Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants.