Version 5.4
| Homo sapiens Gene: LOXHD1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-2961.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | LOXHD1 | ||||||||||||||||||
| Gene Name | lipoxygenase homology domains 1 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000167210 | ||||||||||||||||||
| Encoded Proteins |
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
lipoxygenase homology domains 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 18:46476972-46657033 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q21.1 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | C9J269 J3QKX9 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 125336 | ||||||||||||||||||
| UniGene | Hs.345877 | ||||||||||||||||||
| RefSeq | NM_001145472 NM_001145473 NM_001173129 NM_144612 XM_006722386 XM_006722387 XM_006722389 XM_006722391 | ||||||||||||||||||
| HUGO | HGNC:26521 | ||||||||||||||||||
| OMIM | 613072 | ||||||||||||||||||
| CCDS | CCDS45861 CCDS45862 CCDS54184 | ||||||||||||||||||
| HPRD | 08316 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC018931 AC064800 AC091139 CH471088 | ||||||||||||||||||
| GenPept | EAX01478 | ||||||||||||||||||
| RNA Seq Atlas | 125336 | ||||||||||||||||||