LOXHD1 Chromosome 18
Lipoxygenase homology PLAT domains 1
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What This Gene Does
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]
Associated Conditions (14)
Autosomal recessive nonsyndromic hearing loss 77
Hearing impairment
Inborn genetic diseases
LOXHD1-related disorder
concomitant exotropia
VATER association
Rare genetic deafness
Malignant tumor of esophagus
Nonsyndromic genetic hearing loss
Monogenic hearing loss
Stickler syndrome
Hearing loss
autosomal recessive
Deafness
Key Variants
RS1048096626
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS1051629865
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS112463030
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS112618498
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS113994614
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS114082868
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS114557260
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS115042043
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115275492
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS115395163
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115658952
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
RS115835484
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
Health Risk
All Variants (458)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143887823 | Health Risk | Pathogenic | — |
| RS2143916424 | Health Risk | Pathogenic | — |
| RS2143918072 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2143919227 | Health Risk | Pathogenic | — |
| RS2143957245 | Health Risk | Pathogenic | — |
| RS2143974313 | Health Risk | Pathogenic | — |
| RS2143975906 | Health Risk | Pathogenic | — |
| RS2144003933 | Health Risk | Pathogenic | — |
| RS2144015428 | Health Risk | Pathogenic | — |
| RS2144035251 | Health Risk | Pathogenic | — |
| RS2144059286 | Health Risk | Pathogenic | — |
| RS2144060132 | Health Risk | Pathogenic | — |
| RS2144060522 | Health Risk | Pathogenic | — |
| RS2144083830 | Health Risk | Pathogenic | — |
| RS2144134463 | Health Risk | Pathogenic | — |
| RS2144138527 | Health Risk | Pathogenic | — |
| RS2144169642 | Health Risk | Pathogenic | — |
| RS2144219491 | Health Risk | Pathogenic | — |
| RS2144220255 | Health Risk | Pathogenic | — |
| RS2144221933 | Health Risk | Pathogenic | — |
| RS2144246928 | Health Risk | Pathogenic | — |
| RS2144247310 | Health Risk | Pathogenic | — |
| RS2144267356 | Health Risk | Pathogenic | — |
| RS2144280231 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2144283917 | Health Risk | Pathogenic | — |
| RS2144284524 | Health Risk | Pathogenic | — |
| RS2144311662 | Health Risk | Pathogenic | — |
| RS2144311846 | Health Risk | Pathogenic | — |
| RS2144370278 | Health Risk | Pathogenic | — |
| RS2144399576 | Health Risk | Pathogenic | — |
| RS2144401070 | Health Risk | Pathogenic | — |
| RS2144401197 | Health Risk | Pathogenic | — |
| RS2144417850 | Health Risk | Pathogenic | — |
| RS2511335336 | Health Risk | Pathogenic | — |
| RS2511365219 | Health Risk | Pathogenic | — |
| RS2511374276 | Health Risk | Pathogenic | — |
| RS2511374491 | Health Risk | Pathogenic | — |
| RS2511397357 | Health Risk | Pathogenic | — |
| RS2511481026 | Health Risk | Pathogenic | — |
| RS2511481049 | Health Risk | Pathogenic | — |
| RS2511482068 | Health Risk | Pathogenic | — |
| RS2511482489 | Health Risk | Pathogenic | — |
| RS2511495976 | Health Risk | Pathogenic | — |
| RS2511512805 | Health Risk | Pathogenic | — |
| RS2511512891 | Health Risk | Pathogenic | — |
| RS2511568251 | Health Risk | Pathogenic | — |
| RS2511569016 | Health Risk | Pathogenic | — |
| RS2511570088 | Health Risk | Pathogenic | — |
| RS2511570527 | Health Risk | Pathogenic | — |
| RS2511598355 | Health Risk | Pathogenic | — |