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Gene : LOXHD1 Homo sapiens

Name  ? lipoxygenase homology domains 1 Cytological Location  18q21.1
Brief Description  lipoxygenase homology domains 1
description  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]
  • synonyms:
  • LOXHD1,
  • DFNB77,
  • deafness, autosomal recessive 77,
  • NM_144612,
  • HGNC:26521,
  • AK057232,
  • FLJ32670,
  • OTTHUMG00000132644,
  • LH2D1,
  • LH2D1,
  • uc010xcw.2,
  • DFNB77
  • identifiers:
  • 125336,
  • ENSG00000167210,
  • LOXHD1

Genome feature

Region: gene ? Length: 180144  
Location: 18:46476972-46657115 reverse strand Cyto location: 18q21.1


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Disease

1 Diseases

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0 Pathways

51 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results