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FLASH GENE
Symbol ELOVL4 contributors: mct/pgu - updated : 16-11-2021
HGNC name elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
HGNC id 14415
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
  • ELOVL4 is an integral endoplasmic reticulum (ER) protein that mediates the elongation of very long chain (VLC) FAs
  • ELOVL4 enzymatic activity is governed by individual histidines in its active site and the ER microenvironment, both of which are essential for elongation of VLC-FAs
  • specific roles for ELOVL4 and its products in oligodendrocytes and myelin and in cellular proliferation, especially during development, are possible
  • collectively responsible for catalyzing formation of long chain fatty acids
  • is the only family member that catalyzes production of Very Long Chain Saturated Fatty Acids (VLC-SFA) and Very Long Chain Polyunsaturated Fatty Acids (VLC-PUFA) with chain lengths &
    • 8805;28 carbons
    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 , 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