anti-Lipoxygenase Homology Domains 1 Antibodies

Protein 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.

Gene names and symbols associated with LOXHD1

• lipoxygenase homology domains 1 (LOXHD1) antibody
• lipoxygenase homology domains 1 (Loxhd1) antibody

• 1700096C21Rik antibody
• 4932417K07 antibody
• DFNB77 antibody
• LH2D1 antibody
• sba antibody

Protein level used designations for LOXHD1

lipoxygenase homology domain-containing protein 1