ELOVL4 - ELOVL fatty acid elongase 4 Gene

Also Known as ADMD; CT118; ISQMR; SCA34; STGD2; STGD3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6785

About ELOVL4

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:79,914,814-79,947,553 (from NCBI)

This gene has 1 transcript (splice variant), 273 orthologues, 6 paralogues and is associated with 8 phenotypes. Biased expression in skin (RPKM 21.8), brain (RPKM 9.7) and 8 other tissues.

Summary

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

ELOVL4 Products (1)

mRNA	Protein	Name
NM_022726.4	NP_073563.1	elongation of very long chain fatty acids protein 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20937905	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fatty acid elongation, saturated fatty acid	IDA IDA: Inferred from direct assay	20937905	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: Inferred from direct assay	20937905	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20937905	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16036915	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

ELOVL4 Protein Structure

ELO

0
100
200
300
314 a.a.

Protein Preferred Names	Protein Names
elongation of very long chain fatty acids protein 4	3-keto acyl-CoA synthase ELOVL4

ELOVL4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ELOVL4	Q9GZR5	TMEM242	Homo sapiens	Q9NWH2	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	ADGRE2	Homo sapiens	Q9UHX3	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	ATP13A1	Homo sapiens	Q9HD20-3	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	TREX1	Homo sapiens	Q9NSU2-1	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	TECR	Homo sapiens	Q9NZ01	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	TMEM222	Homo sapiens	Q9H0R3	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	HSD3B7	Homo sapiens	Q9H2F3	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	PLLP	Homo sapiens	Q9Y342	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	FXYD6	Homo sapiens	Q9H0Q3	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	RAB18	Homo sapiens	Q9NP72	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	SYNDIG1	Homo sapiens	Q9H7V2	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	CCDC167	Homo sapiens	Q9P0B6	Validated Y2H	32296183
Intra	ELOVL4	Q9GZR5	UBE2J1	Homo sapiens	Q9Y385	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 34	Erythrokeratodermia With Ataxia Spinocerebellar Ataxia Type 34 SCA34 Erythrokeratodermia - Ataxia Giroux Barbeau Syndrome Spinocerebellar Ataxia And Erythrokeratodermia Erythrokeratodermia Ataxia
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome ISQMR Congenital Ichthyosis-Intellectual Disability-Spastic Tetraplegia Syndrome Elovl4-Related Neuro Ichthyosis Ichthyosis, Spastic Quadriplegia, And Intellectual Disability
Stargardt Disease 3	STGD3 Macular Dystrophy With Flecks, Type 3 Stargardt-Like Macular Dystrophy, Autosomal Dominant Macular Dystrophy Autosomal Dominant Chromosome 6-Linked Macular Dystrophy With Flecks Type 3 Stargardt-Like Macular Dystrophy Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Quadriplegia	Tetraplegia Tetraplegias
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Toxic Maculopathy	Toxic Maculopathy Of Retina
Spastic Ataxia	Spax Ataxia, Spastic
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Retinal Degeneration	Degeneration Of Retina
Macular Degeneration, Age-Related, 4	Age Related Macular Degeneration 4 ARMD4 Macular Degeneration, Age-Related, Type 4
Cone-Rod Dystrophy 7	CORD7 Dystrophy, Cone-Rod, Type 7 Retinitis Pigmentosa 7
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia Type 38 SCA38 Ataxia, Spinocerebellar, Type 38
46,Xy Sex Reversal 6	SRXY6 46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related 46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related 46xy Sex Reversal 6 46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related 46,Xy Sex Reversal Partial Or Complete Map3k1-Related
Sjogren-Larsson Syndrome	Sjögren-Larsson Syndrome SLS Faldh Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Acid Alcohol Oxidoreductase Deficiency Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia Sjogren Larsson Syndrome Fatty Alcohol:Nad+ Oxidoreductase Deficiency Sjogren-Larsson'S Syndrome Fadh Deficiency Fao Deficiency Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis Oligophrenia Syndrome Sjoegren-Larsson Syndrome
Cowden Syndrome 5	CWS5 Cowden Syndrome, Type 5
Retinitis Pigmentosa 19	RP19 Retinitis Pigmentosa-19 Retinitis Pigmentosa, Type 19
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Spinocerebellar Ataxia, Autosomal Recessive 14	Autosomal Recessive Spinocerebellar Ataxia 14 SCAR14 Sparca1 Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur Autosomal Recessive Spinocerebellar Ataxia Type 14 Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome Sparca Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 Spinocerebellar Ataxia, Autosomal Recessive, 14 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Spastic Paraplegia 41, Autosomal Dominant	SPG41 Hereditary Spastic Paraplegia 41 Autosomal Dominant Spastic Paraplegia Type 41 Autosomal Dominant Spastic Paraplegia 41
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Retinal Drusen
Acrokeratosis Verruciformis	Acrokeratosis Verruciformis Of Hopf Hopf Disease AKV Akv Of Hopf
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Eye Degenerative Disease
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117081	C30(ω-hydroxy) Ceramide (d18:1/30:0)		99.46%	Unkown
HY-RS04324	ELOVL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ELOVL4	MGD	MGI:1933331
Bos taurus	ELOVL4	VGNC	VGNC:28450
Felis catus	ELOVL4	VGNC	VGNC:102418
Rattus norvegicus	ELOVL4	RGD	RGD:1305630
Macaca mulatta	ELOVL4	VGNC	VGNC:72044
Canis familiaris	ELOVL4	VGNC	VGNC:40322
Others	ELOVL4	NCBI