LOXHD1 - lipoxygenase homology PLAT domains 1 Gene

Also Known as LH2D1; DFNB77

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 125336

About LOXHD1

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:46,476,961-46,657,220 (from NCBI)

This gene has 13 transcripts (splice variants), 205 orthologues, 10 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 2.9), bone marrow (RPKM 0.7) and 3 other tissues.

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]

LOXHD1 Products (6)

mRNA	Protein	Name
NM_001145472.3	NP_001138944.1	lipoxygenase homology domain-containing protein 1 isoform 2
NM_001145473.3	NP_001138945.1	lipoxygenase homology domain-containing protein 1 isoform 3
NM_001173129.2	NP_001166600.1	lipoxygenase homology domain-containing protein 1 isoform 4
NM_001308013.2	NP_001294942.1	lipoxygenase homology domain-containing protein 1 isoform 5
NM_001384474.1	NP_001371403.1	lipoxygenase homology domain-containing protein 1 isoform 6
NM_144612.7	NP_653213.6	lipoxygenase homology domain-containing protein 1 isoform 1

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	19732867	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LOXHD1 Protein Structure

PLAT

0
200
400
600
800
1000
1114 a.a.

Protein Preferred Names	Protein Names
lipoxygenase homology domain-containing protein 1	lipoxygenase homology domains 1

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 77	DFNB77 Autosomal Recessive Nonsyndromic Deafness 77 Autosomal Recessive Deafness 77 Deafness, Autosomal Recessive, 77 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 Deafness, Autosomal Recessive, Type 77
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Rare Genetic Deafness	Rare Genetic Hearing Loss
Corneal Endothelial Dystrophy	Congenital Hereditary Endothelial Dystrophy Of Cornea Chandler Syndrome CHED Chandler'S Syndrome Endothelial Corneal Dystrophy Ched2 Maumenee Corneal Dystrophy Corneal Dystrophy, Congenital Hereditary Endothelial Dystrophy Of Corneal Endothelium Corneal Endothelial Dystrophy 2 Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly Ched2, Formerly Corneal Endothelial Dystrophy, Autosomal Recessive Endothelial Dystrophy Posterior Membrane Corneal Dystrophy Corneal Endothelial Dystrophy Type 2 Congenital Hereditary Endothelial Dystrophy Of The Cornea Congenital Hereditary Endothelial Dystrophy Type Ii Autosomal Recessive Ched Autosomal Recessive Congenital Hereditary Endothelial Dystrophy Chedii Congenital Hereditary Endothelial Dystrophy Type 2 Infantile Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Corneal Dystrophy Corneal Endothelial Dystrophy 2, Autosomal Recessive Iridocorneal Endothelial Syndrome Dystrophy, Corneal, Endothelial Corneal Endothelial Dystrophy 1, Autosomal Dominant
Secondary Corneal Edema
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Deafness, Autosomal Recessive 111	DFNB111 Autosomal Recessive Nonsyndromic Deafness 111 Autosomal Recessive Deafness 111 Deafness, Autosomal Recessive, 111
Deafness, Autosomal Dominant 65	DFNA65 Autosomal Dominant Nonsyndromic Deafness 65 Autosomal Dominant Deafness 65 Deafness, Autosomal Dominant, 65 Deafness, Autosomal Dominant, Type 65
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Deafness, Autosomal Dominant 20	DFNA20 Dfna26 Deafness, Autosomal Dominant 20/26 Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Deafness 20 Deafness, Autosomal Dominant, 20 Deafness Autosomal Dominant 26 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 Deafness, Autosomal Dominant, Type 20/26
Deafness, Autosomal Recessive 8	Neurosensory Nonsyndromic Recessive Deafness 8 DFNB8 Dfnb10 Deafness, Autosomal Recessive 10 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 Nsrd8 Autosomal Recessive Nonsyndromic Deafness 8 Deafness, Autosomal Recessive 8/10 Autosomal Recessive Deafness 10 Autosomal Recessive Deafness 8 Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 Nrsd8 Deafness, Autosomal Recessive, 8 Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 Deafness Autosomal Recessive 10 Deafness Autosomal Recessive 8/10 Deafness Neurosensory Autosomal Recessive 8 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 Deafness, Autosomal Recessive, Type 8/10
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Corneal Edema	Corneal Oedema Infiltrate Of Cornea
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Deafness, Autosomal Recessive 86	DFNB86 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Deafness 86 Deafness, Autosomal Recessive, 86 Deafness, Nonsyndromic, Autosomal Recessive, Type 86
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Corneal Disease	Corneal Diseases Corneal Disorders
Epithelial Recurrent Erosion Dystrophy	ERED Corneal Erosions, Recurring Hereditary Col17a1 Dystrophia Helsinglandica Dystrophia Smolandiensis Recurrent Hereditary Corneal Erosions Rces Recurrent Corneal Erosion Syndrome Recurrent Erosion Of Cornea
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Corneal Dystrophy
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Stromal Dystrophy
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07740	LOXHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LOXHD1	VGNC	VGNC:63258
Rattus norvegicus	LOXHD1	RGD	RGD:1304815
Mus musculus	LOXHD1	MGD	MGI:1914609
Canis familiaris	LOXHD1	VGNC	VGNC:42738
Macaca mulatta	LOXHD1	VGNC	VGNC:74368
Bos taurus	LOXHD1	VGNC	VGNC:106804