LOXHD1
Sign in to saveAlso known as DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1
Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.
Gene data
LOXHD1- Name
- lipoxygenase homology PLAT domains 1
- Type
- protein-coding
- Position
- 46,476,971–46,657,220 (−)
- Aliases
- DFNB77, LH2D1
- Ensembl
- ENSG00000167210
- RefSeq RNA
- NM_001145472.3, NM_001145473.3, NM_001173129.2, NM_001308013.2, NM_001384474.1
- RefSeq protein
- NP_001138944.1, NP_001138945.1, NP_001166600.1, NP_001294942.1, NP_001371403.1
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].
Gene Ontology
Cellular component
via MyGene.info
Gene · Ensembl
lipoxygenase homology PLAT domains 1
- Symbol
- LOXHD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:46,476,971-46,657,220
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
3 sectionsContents
- Function
- References
- Further reading
Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.
== Function ==
Excerpted from Wikipedia’s “LOXHD1” article, available under the CC BY-SA 4.0 licence.