LOXHD1

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LOXHD1
Identifiers
Aliases LOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1
External IDs HomoloGene: 16947 GeneCards: LOXHD1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145472
NM_001145473
NM_001173129
NM_001308013
NM_144612

n/a

RefSeq (protein)

NP_001138944
NP_001138945
NP_001166600
NP_001294942
NP_653213

n/a

Location (UCSC) Chr 18: 46.48 – 46.66 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.[2]

Function[edit]

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.[2]

References[edit]

Further reading[edit]