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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

STGD3 , NICHD , SCA34

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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