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elongation of very long chain fatty acids protein 4 (ELOVL4)
Function:
- role in biosynthesis of very long chain fatty acids
- photoreceptor-specific component of fatty acid elongation
- docosahexaenoic acid (DHA) biosynthesis
Compartment: endoplasmic reticulum membrane
Expression: expressed in the retina >> brain
Pathology:
- defects in ELOVL4 are the cause of Stargardt disease 3
General
elongation of very long chain fatty acids protein
glycoprotein
transmembrane 5 protein
Properties
SIZE: MW = 37 kD
entity length = 314 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: N-glycosylation site {N20}
transmembrane domain {42-62}
transmembrane domain {78-98}
transmembrane domain {165-185}
transmembrane domain {188-208}
transmembrane domain {247-267}
Di-lysine motif {310-312}
Database Correlations
OMIM correlations
MORBIDMAP 605512
UniProt Q9GZR5
Pfam PF01151
References
- UniProt :accession Q9GZR5
- Mutations of the ELOVL4 gene
Retina International's Scientific Newsletter
http://www.retina-international.com/sci-news/elovlmut.htm
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ELOVL4