LOXHD1 - lipoxygenase homology PLAT domains 1 Gene

Homo sapiens

Also known as LH2D1; DFNB77

Gene ID: 125336 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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