LOXHD1, lipoxygenase homology domains 1

LOXHD1, lipoxygenase homology domains 1

• 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]

• Gene Synonyms (DFNB77, LH2D1, lipoxygenase homology domain-containing protein 1,)
• NCBI Gene ID: 125336
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8IVV2
  UNIPROT ID#>>J3QKX9
  UNIPROT ID#>>F5GZB4
  UNIPROT ID#>>H7BZ41
  UNIPROT ID#>>B7Z7T7
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

lipoxygenase homology domains 1 interacts with:

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.