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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
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