LOXHD1

Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.[3]

LOXHD1
Identifiers
AliasesLOXHD1, DFNB77, LH2D1, lipoxygenase homology domains 1, lipoxygenase homology PLAT domains 1
External IDsOMIM: 613072 HomoloGene: 16947 GeneCards: LOXHD1
Orthologs
SpeciesHumanMouse
Entrez

125336

n/a

Ensembl

ENSG00000167210

n/a

UniProt

Q8IVV2

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

NP_001138944
NP_001138945
NP_001166600
NP_001294942
NP_653213

n/a

Location (UCSC)Chr 18: 46.48 – 46.66 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

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.[3]

References

  1. GRCh38: Ensembl release 89: ENSG00000167210 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Entrez Gene: Lipoxygenase homology domains 1". Retrieved 2012-04-10.

Further reading


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