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LoxHD1 may link the plasma membrane to F actin cytoskeleton

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the mutation leads to different auditory phenotypes in humans and mice. This shows that the protein may have different effects across species.

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Effects calcium channel activity (Gene Cards, 2016)

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ARNSHL = autosomal recessive non-syndomic hearing loss

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Mutation in the lipoxygenase homology domains-containing 1 gene

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Mutation in the lipoxygenase homology domains-containing 1 gene

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"Nonsense mutation in LOXHD1 is predicted to introduce a premature stop codon" (Grillet et al., 2009)
Leads to ARNSHL

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Bi-directional Sanger Sequence Analysis

Applied Biosystems 3730 capillary sequencing instrument

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina HiSeq™2000 system

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A form of non-syndromic deafness characterized by preserved low-frequency hearing.

Mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence.

Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.