LOXHD1
Gene Information
- Official Symbol: LOXHD1
- Official Name: lipoxygenase homology domains 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 125336
- UniProt: Q8IVV2
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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. [provided by RefSeq, Mar 2010].
- UniProt Summary: Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). {ECO:0000250, ECO:0000269|PubMed:19732867}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 14026
- Expression level (log2 read counts): -6.6
LOXHD1 Expression in NALM6 Cells: -6.6
