LOXHD1

Protein-coding gene in the species Homo sapiens
LOXHD1
Identifiers
AliasesLOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1
External IDsOMIM: 613072; MGI: 1914609; HomoloGene: 16947; GeneCards: LOXHD1; OMA:LOXHD1 - orthologs
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for LOXHD1
Genomic location for LOXHD1
Band18q21.1Start46,476,972 bp[1]
End46,657,220 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for LOXHD1
Genomic location for LOXHD1
Band18|18 E3Start77,369,654 bp[2]
End77,530,626 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left testis

  • right testis

  • sperm

  • testicle

  • gonad

  • bone marrow cells

  • monocyte

  • blood

  • apex of heart

  • pituitary gland
Top expressed in
  • spermatocyte

  • testicle

  • spermatid
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium channel activity
  • catalase activity
  • heme binding
Cellular component
  • cell projection
  • membrane
  • stereocilium
Biological process
  • hearing
  • detection of mechanical stimulus
  • calcium ion transmembrane transport
  • cellular oxidant detoxification
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

125336

240411

Ensembl

ENSG00000167210

ENSMUSG00000032818

UniProt

Q8IVV2

C8YR32

RefSeq (mRNA)
NM_001145472
NM_001145473
NM_001173129
NM_001308013
NM_144612

NM_001384474

NM_172834

RefSeq (protein)

NP_001138944
NP_001138945
NP_001166600
NP_001294942
NP_653213

NP_766422

Location (UCSC)Chr 18: 46.48 – 46.66 MbChr 18: 77.37 – 77.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.[5]

Function

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.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167210 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032818 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: Lipoxygenase homology domains 1". Retrieved 2012-04-10.

Further reading

  • Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U (Sep 2009). "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans". American Journal of Human Genetics. 85 (3): 328–37. doi:10.1016/j.ajhg.2009.07.017. PMC 2771534. PMID 19732867.
  • Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O (May 2011). "A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews". American Journal of Medical Genetics Part A. 155A (5): 1170–2. doi:10.1002/ajmg.a.33972. PMID 21465660. S2CID 22049090.


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