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

Chr9:83778693-83806305 bp, - strand From Ensembl annotation of GRCm38   27613 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; 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, STGD2, STGD3
Human Chr (Location)		6q14; chr6:80624529-80657315 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ELOVL4

Alleles and phenotypes

All alleles(7) : Targeted(6) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	fatty acid biosynthetic process, fatty acid elongation, saturated fatty acid, ...
Component	endoplasmic reticulum, integral to endoplasmic reticulum membrane, ...
Function	transferase activity

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (27)    Tissues (7)   
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	27

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(26) cDNA(26)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000032262 (Evidence)
Entrez Gene	83603 (Evidence)
UniGene	83949
DFCI	TC1577828, TC1676665
DoTS	DT.40165246
NIA Mouse Gene Index	U031148
EC	2.3.1.199
Consensus CDS Project	CCDS23376.1
International Mouse Knockout Project Status	Elovl4

Sequences

Length	Strain/Species
genomic	ENSMUSG00000032262	Ensembl Gene Model | MGI Sequence Detail	27613	C57BL/6J
transcript	ENSMUST00000034796	Ensembl | MGI Sequence Detail	3053	Not Applicable
polypeptide	ENSMUSP00000034796	Ensembl | MGI Sequence Detail	312	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(161 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173583 McMahon A, et al., Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. J Lipid Res. 2011 Jun;52(6):1128-38
All references(41)