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Elovl4
Gene Detail
Symbol

Name
ID
Elovl4
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
MGI:1933331
Feature Type
protein coding gene
Genetic Map
Chromosome 9
45.60 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr9:83778692-83806277 bp, - strand
From VEGA annotation of GRCm38

  27586 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41488  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 3 zebrafish

Gene Tree: Elovl4

Human
homologs
Human Homolog ELOVL4, ELOVL fatty acid elongase 4
NCBI Gene ID 6785
neXtProt AC  NX_Q9GZR5
Human Synonyms  ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
Human Chr (Location)  6q14; chr6:79914812-79947598 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human ELOVL4
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(1) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities.
 
Human Diseases Modeled Using Mouse Elovl4 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Elovl4 interacts with 257 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (27)    Tissues (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 27
cDNA source data(24)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(26) cDNA(26)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000044946 (Evidence)
Ensembl Gene ModelENSMUSG00000032262 (Evidence)
Entrez Gene83603 (Evidence)
UniGene83949
DFCITC1577828, TC1676665
DoTSDT.40165246
NIA Mouse Gene IndexU031148
EC2.3.1.199
Consensus CDS ProjectCCDS23376.1
International Mouse Knockout Project StatusElovl4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044946 VEGA Gene Model | MGI Sequence Detail 27586 C57BL/6J ±  kb
transcript OTTMUST00000118122 VEGA | MGI Sequence Detail 3001 Not Applicable 
polypeptide OTTMUSP00000065959 VEGA | MGI Sequence Detail 312 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(332 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002076 GNS1/SUR4 membrane protein
Protein Ontology PR:000007039 elongation of very long chain fatty acids protein 4
References
(Earliest) J:66736 Zhang K, et al., A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001 Jan;27(1):89-93
(Latest) J:204477 Sassa T, et al., Impaired epidermal permeability barrier in mice lacking elovl1, the gene responsible for very-long-chain fatty acid production. Mol Cell Biol. 2013 Jul;33(14):2787-96
All references(44)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory