ELOVL4 ELOVL fatty acid elongase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOVL4provided by HGNC
Official Full Name: ELOVL fatty acid elongase 4provided by HGNC
Primary source: HGNC:HGNC:14415
See related: Ensembl:ENSG00000118402 MIM:605512; AllianceGenome:HGNC:14415
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
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]
Expression: Biased expression in skin (RPKM 21.8), brain (RPKM 9.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (79914814..79947553, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (81123209..81155949, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (80624531..80657270, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Title: Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Title: Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Title: ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
Title: Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia.
Title: Increased VLCFA-lipids and ELOVL4 underlie neurodegeneration in frontotemporal dementia.
The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome.
Title: The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome.
ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.
Title: ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis.
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
Title: Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
Title: The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
A highly reduced activity of the ELOVL4 promoter was registered due to combination of two variants. Decrease of ELOVL4 enzymatic activity could lead to a deficiency of VLC-PUFA, essential components for rods function and longevity, which are among the parameters involved in the etiopathogenesis of stargardt disease.
Title: Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MedGen: C3280856 OMIM: 614457 GeneReviews: Not available	Compare labs
Spinocerebellar ataxia type 34 MedGen: C1851481 OMIM: 133190 GeneReviews: Not available	Compare labs
Stargardt disease 3 MedGen: C1838644 OMIM: 600110 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. EBI GWAS Catalog EBI GWAS CatalogPubMed
Linkage and association of successful aging to the 6q25 region in large Amish kindreds. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46713 (e-PCR)
- UniSTS:58136

SHGC-106356 (e-PCR)
- UniSTS:169756

SGC34498 (e-PCR)
- UniSTS:21854

RH102273 (e-PCR)
- UniSTS:96607

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled photoreceptor activity	NAS Non-traceable Author Statement more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in detection of visible light	IEA Inferred from Electronic Annotation more info
involved_in fatty acid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, saturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty-acyl-CoA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in very long-chain fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: very long chain fatty acid elongase 4

Names: 3-keto acyl-CoA synthase ELOVL4; ELOVL FA elongase 4; cancer/testis antigen 118; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; elongation of very long chain fatty acids protein 4; very long chain 3-ketoacyl-CoA synthase 4; very long chain 3-oxoacyl-CoA synthase 4

NP_073563.1

EC 2.3.1.199

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.