Aliases for LOXHD1 Gene
External Ids for LOXHD1 Gene
Previous HGNC Symbols for LOXHD1 Gene
Previous GeneCards Identifiers for LOXHD1 Gene
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]
GeneCards Summary for LOXHD1 Gene
LOXHD1 (Lipoxygenase Homology Domains 1) is a Protein Coding gene. Diseases associated with LOXHD1 include Deafness, Autosomal Recessive 77 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include calcium channel activity. An important paralog of this gene is PKD1.
UniProtKB/Swiss-Prot for LOXHD1 Gene
Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).