Bos taurus Gene: LOXHD1
Summary
InnateDB Gene IDBG-644591.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LOXHD1
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000015210
Encoded Proteins
lipoxygenase homology domains 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000167210:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 24:46727020-46815494
Strand Reverse strand
Band
Transcripts
ENSBTAT00000020236 ENSBTAP00000020236
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005262 calcium channel activity
GO:0005515 protein binding
Biological Process
GO:0007605 sensory perception of sound
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0016020 membrane
GO:0032420 stereocilium
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL F1MXT4
UniProt Splice Variant
Entrez Gene 784983
UniGene
RefSeq XM_003587792
HUGO HGNC:26521
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02056920
GenPept
RNA Seq Atlas 784983