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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LOXHD1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID125336
Official gene symbolLOXHD1
Full namelipoxygenase homology domains 1
Aliases,DFNB77,FLJ32670,LH2D1,
Gene summaryThis 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]
LocationChromosome: 18   Locus: 18q21.1
Gene position44236996 - 44056935  Map Viewer
Gene orientationminus
Gene size180062 bp
Gene sequence
OMIM ID613072