LOXHD1

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]

Description

Lipoxygenase homology domains 1

Tissue specificity

Group enriched (epididymis, testis)

Subcell location

Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

18 (46476972 - 46657220)

Ensembl ID

ENSG00000167210  (ver. 103.38)

Orthologs

Mouse Loxhd1: ENSMUSG00000032818

UniProt

Q8IVV2

neXtProt

NX_Q8IVV2

Human splice variants
Mouse splice variants

Protein structure