XB-FEAT-6467523: Difference between revisions
imported>Xenbase Created page with "=''loxhd1''= This is the community wiki page for the gene ''loxhd1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhe..." |
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Human name has changed for Entrez Gene: 125336. From lipoxygenase homology domains 1 to lipoxygenase homology PLAT domains 1 | Human name has changed for Entrez Gene: 125336. From lipoxygenase homology domains 1 to lipoxygenase homology PLAT domains 1 | ||
=summary for human LOXHD1 from NCBI= | |||
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] | |||
Latest revision as of 10:57, 25 February 2021
loxhd1
This is the community wiki page for the gene loxhd1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
2.17.2021 Human name has changed for Entrez Gene: 125336. From lipoxygenase homology domains 1 to lipoxygenase homology PLAT domains 1
summary for human LOXHD1 from NCBI
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]