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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022726 6 - 3095 - 314 - 2007 17304340

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessels aorta       Nervous brain       moderately Homo sapiens Visual eye lens         eye retina macula   predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod 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)

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