Entity Details

Primary name LOXHD1
Entity type gene
Source Source Link

Details

PrimaryID125336
RefseqGeneNG_016646
SymbolLOXHD1
Namelipoxygenase homology PLAT domains 1
Chromosome18
Location18q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLOXH1_HUMAN

GO terms

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GOName
GO:0004096 catalase activity
GO:0007605 sensory perception of sound
GO:0020037 heme binding
GO:0032420 stereocilium

Diseases

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Disease IDSourceNameDescription
613079 OMIMDeafness, 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
LOXHD1TSC22D2BioGRID27337956 details
LOXHD1FKBP4BioGRID, IntAct17353931 details
LOXHD1NOLC1BioGRID, IntAct30021884 details
LOXHD1RNF123BioGRID29676528 details