Scientific		 Elongation of Very Long Chain Fatty Acids-like Protein 4 (ELOVL4>/I>) Editor’s
Recent update from: 04.04.2005
ELOVL4, Type 4 Notes

  • No expression in kidney
  • No expressed pseudogenes
  • ER retention signal
  • Expressed in retina only
  • Part of the enzymatic complex that executes the foru enzymatic steps in the elongation of verya-long chain fatty acids in the neural retina
  • Coversion of alpha-linolenic acid into arachidonic acid (20:4n-6) and docosahexanoic acid (20:6n-3)
  • DSocosahexanoic acid accounts for 33% of POS membranes
Species: Homo sapiens
See also:
Chromosomal localisation in man: 6q14

in mouse:
Gene Data

Exons: 6
Primers: complete
Protein Data
Amino acids: 314 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (1)
ELOVL4, Type 4 Notes

  • Involved in synthesis of PUFA
  • Similarities to the ELO family
  • DHA represent 50% of PUFA in POS and plays a crucial role in photoreceptor cell functions
  • Reduced DHA in the serum of RP patients
Species: Homo sapiens
See also:
Chromosomal localisation in man: 6q14

in mouse:
Gene Data

Exons: 6
Primers: complete
Protein Data
Amino acids: 314 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
ELOVL4, Type 4 Notes

  • 35% AA identity to members of the ELO family
  • Component of the fatty acid chain elongation system on the ER
  • 5 TM segments
  • HXXHH motif
  • ER retention signal (KXKXX)
  • 95% AA identity to mouse ortholog
  • No mRNA in ARPE-19 cell line (RPE)
  • Retina specific
  • 90% lower transcription in human brain
  • Strong in-situ IR positive signals in photoreceptor layer of mouse and rhesus monkey
  • Signals in cones and rods
Species: Homo sapiens
See also:
Chromosomal localisation in man:

in mouse:
Gene Data
mRNA: 2.9
Exons: 6
Primers:
Protein Data
Amino acids: 314 AA
Molecular weight on SDS-PAGE:

calculated:
Reference: (3)
References:
  1. Edwards,A.O., Donoso,L.A., and Ritter,R., III. A novel gene for autosomal dominant stargardt-like macular dystrophy with homology to the sur4 protein family. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2652-2663.
    Link Goto Top
  2. Li,T., Adamian,M., and Hong. Immunolocalization Of The RPGR Interacting Protein RPGRIP In The Retina. 2001; Invest.Ophthalmol.Vis.Sci. 42: S656 Goto Top
  3. Zhang,Q.J., Xiao,X.S., Li,S.Q., Zhang,F.S., Guo,X.M., Jia,X.Y., Shen,H.X., Li,J.Z., Li,W., and Yang,L.P. Family collection and candidate gene analysis of genetic eye diseases. 2001; Invest.Ophthalmol.Vis.Sci. 42: S646 Goto Top

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Contact the editor 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz