LOXHD1 gene

lipoxygenase homology domains 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in hearing. Required for normal function of hair cells in the inner ear.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 77

From UniProt:

Deafness, autosomal recessive, 77 (DFNB77): A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward 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. [MIM:613079]

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1

Molecular Location: base pairs 46,476,961 to 46,657,115 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.1, which is the long (q) arm of chromosome 18 at position 21.1
  • DFNB77
  • LH2D1