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FLASH GENE
Symbol ELOVL4 contributors: mct/pgu - updated : 15-12-2011
HGNC name elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
HGNC id 14415
Corresponding disease
ADMD progressive retinal pigment epithelial atrophy in the macula
NICHD neuro-ichthyotic disease
SCA34 spinocerebellar ataxia 34
STGD3 Stargardt disease 3
Location 6q14.1      Physical location : 80.624.535 - 80.657.315
Synonym name elongation of very long chain fatty acids protein 4
Synonym symbol(s) STGD2, ADMD, CT118, STGD3
DNA
TYPE functioning gene
STRUCTURE 32.79 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3095 - 314 - 2007 17304340
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselsaorta   
Nervousbrain   moderately Homo sapiens
Visualeyelens   
 eyeretinamacula predominantly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningepidermis  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal transmembrane segments in the central hydrophilic region
  • five putative transmembrane segments
  • a single dioxy iron binding motif (HXXHH), which is essential for enzymatic activity
  • a C-terminal dilysine motif (KXKXX) necessary for endoplasmic reticulum (ER) retention
  • HOMOLOGY
    interspecies homolog to yeast Elovl4
    ortholog to murine Elovl4
    intraspecies homolog to HELO1,ELOVL1
    Homologene
    FAMILY
  • GNS1/SUR4 family
  • fatty acid elongase (ELO) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text dilysine motif required for localization to RE (without this motif localization to golgi)
    basic FUNCTION
  • involved in the biosynthesis of very long chain fatty acids
  • essential for the synthesis of epidermal very long-chain FA (VLFA), and required for generating -O-acylceramides, a key ceramide molecular species that is essential for permeability barrier function
  • involved in fatty acid elongation, and required for the synthesis of C28 and C30 saturated fatty acids (VLC-FA) and of C28-C38 very long chain polyunsaturated fatty acids (VLC-PUFA), the latter being uniquely expressed in retina, sperm, and brain (mainly present in retinal outer segment membranes in phosphatidylcholine)
  • likely involved in the elongation of C26 and longer fatty acids
  • elongase involved in the production of extremely long-chain fatty acids
  • is essential for very long chain polyunsaturated fatty acid (VLC-PUFA) synthesis as well as retinal functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STGD3 , ADMD , NICHD , SCA34
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   LOH    
    in abnormal epidermal permeability barrier structure and function
    constitutional somatic mutation      
    truncated protein lacking a motif for protein retention in endoplasmic reticulum inSTGD3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • STGD3-knockin mice carrying a human pathogenic mutation showed a selective deficiency of C32-C36 acylphosphatidylcholines leading to the human STGD3 pathology
  • Elovl4 Y270X mutant mice lacking a functional Elovl4 protein died perinatally