LOXHD1

Lipoxygenase homology domains 1
Identifiers
Symbols LOXHD1 ; DFNB77; LH2D1
External IDs OMIM: 613072 HomoloGene: 16947 GeneCards: LOXHD1 Gene
Orthologs
Species Human Mouse
Entrez 125336 240411
Ensembl ENSG00000167210 ENSMUSG00000032818
UniProt Q8IVV2 C8YR32
RefSeq (mRNA) NM_001145472 NM_172834
RefSeq (protein) NP_001138944 NP_766422
Location (UCSC) Chr 18:
46.48 – 46.66 Mb		 Chr 18:
77.28 – 77.44 Mb
PubMed search

Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.[1]

Function

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.[1]

References

  1. 1 2 "Entrez Gene: Lipoxygenase homology domains 1". Retrieved 2012-04-10.

Further reading


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