ELOVL4

ELOVL4
Identifiers
AliasesELOVL4, ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL fatty acid elongase 4
External IDsOMIM: 605512; MGI: 1933331; HomoloGene: 41488; GeneCards: ELOVL4; OMA:ELOVL4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6785

83603

Ensembl

ENSG00000118402

ENSMUSG00000032262

UniProt

Q9GZR5

Q9EQC4

RefSeq (mRNA)

NM_022726

NM_148941

RefSeq (protein)

NP_073563

NP_683743

Location (UCSC)Chr 6: 79.91 – 79.95 MbChr 9: 83.66 – 83.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.[5][6]

ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid).[7][8] ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm.[9][10][11][12][13][14][15] Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34), skin deformities and seizures.[16][17][18][19][20][21][22][23][24][25]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118402 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032262 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K (Jan 2001). "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy". Nature Genetics. 27 (1): 89–93. doi:10.1038/83817. PMID 11138005. S2CID 23672516.
  6. ^ "Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4".
  7. ^ Agbaga MP, Brush RS, Mandal MN, Henry K, Elliott MH, Anderson RE (2008-09-02). "Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids". Proceedings of the National Academy of Sciences of the United States of America. 105 (35): 12843–12848. Bibcode:2008PNAS..10512843A. doi:10.1073/pnas.0802607105. ISSN 1091-6490. PMC 2525561. PMID 18728184.
  8. ^ Vasireddy V, Uchida Y, Salem N, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A (2007-03-01). "Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death". Human Molecular Genetics. 16 (5): 471–482. doi:10.1093/hmg/ddl480. ISSN 0964-6906. PMC 1839956. PMID 17208947.
  9. ^ Yeboah GK, Lobanova ES, Brush RS, Agbaga MP (2021). "Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4". Journal of Lipid Research. 62: 100030. doi:10.1016/j.jlr.2021.100030. ISSN 0022-2275. PMC 8042400. PMID 33556440.
  10. ^ Bennett LD, Brush RS, Chan M, Lydic TA, Reese K, Reid GE, Busik JV, Elliott MH, Anderson RE (2014-04-10). "Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors". Investigative Ophthalmology & Visual Science. 55 (5): 3150–3157. doi:10.1167/iovs.14-13995. ISSN 1552-5783. PMC 4027810. PMID 24722693.
  11. ^ Craig LB, Brush RS, Sullivan MT, Zavy MT, Agbaga MP, Anderson RE (July 2019). "Decreased very long chain polyunsaturated fatty acids in sperm correlates with sperm quantity and quality". Journal of Assisted Reproduction and Genetics. 36 (7): 1379–1385. doi:10.1007/s10815-019-01464-3. ISSN 1573-7330. PMC 6642247. PMID 31073727.
  12. ^ Vasireddy V, Uchida Y, Salem N, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A (2007-03-01). "Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death". Human Molecular Genetics. 16 (5): 471–482. doi:10.1093/hmg/ddl480. ISSN 0964-6906. PMC 1839956. PMID 17208947.
  13. ^ Butovich IA (March 2009). "Cholesteryl esters as a depot for very long chain fatty acids in human meibum". Journal of Lipid Research. 50 (3): 501–513. doi:10.1194/jlr.M800426-JLR200. ISSN 0022-2275. PMC 2638107. PMID 18836212.
  14. ^ McMahon A, Lu H, Butovich IA (2014-05-01). "A role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology". Investigative Ophthalmology & Visual Science. 55 (5): 2832–2840. doi:10.1167/iovs.13-13335. ISSN 1552-5783. PMC 4008046. PMID 24677106.
  15. ^ Hopiavuori BR, Deák F, Wilkerson JL, Brush RS, Rocha-Hopiavuori NA, Hopiavuori AR, Ozan KG, Sullivan MT, Wren JD, Georgescu C, Szweda L (February 2018). "Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency". Molecular Neurobiology. 55 (2): 1795–1813. doi:10.1007/s12035-017-0824-8. ISSN 1559-1182. PMC 5820379. PMID 29168048.
  16. ^ Yeboah GK, Lobanova ES, Brush RS, Agbaga MP (2021). "Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4". Journal of Lipid Research. 62: 100030. doi:10.1016/j.jlr.2021.100030. ISSN 1539-7262. PMC 8042400. PMID 33556440.
  17. ^ Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE (January 2001). "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy". Nature Genetics. 27 (1): 89–93. doi:10.1038/83817. ISSN 1061-4036. PMID 11138005. S2CID 23672516.
  18. ^ Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R (December 2001). "Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene". Investigative Ophthalmology & Visual Science. 42 (13): 3331–3336. ISSN 0146-0404. PMID 11726641.
  19. ^ Maugeri A, Meire F, Hoyng CB, Vink C, Van Regemorter N, Karan G, Yang Z, Cremers FP, Zhang K (December 2004). "A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy". Investigative Ophthalmology & Visual Science. 45 (12): 4263–4267. doi:10.1167/iovs.04-0078. ISSN 0146-0404. PMID 15557430.
  20. ^ Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P (April 2014). "Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia". JAMA Neurology. 71 (4): 470–475. doi:10.1001/jamaneurol.2013.6337. ISSN 2168-6157. PMID 24566826.
  21. ^ Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S (July 2015). "A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34". JAMA Neurology. 72 (7): 797–805. doi:10.1001/jamaneurol.2015.0610. ISSN 2168-6157. PMID 26010696. S2CID 6416150.
  22. ^ Bourassa CV, Raskin S, Serafini S, Teive HA, Dion PA, Rouleau GA (August 2015). "A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia". JAMA Neurology. 72 (8): 942–943. doi:10.1001/jamaneurol.2015.0888. ISSN 2168-6157. PMID 26258735.
  23. ^ Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM (August 2018). "Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)". Neurology. Genetics. 4 (4): e263. doi:10.1212/NXG.0000000000000263. ISSN 2376-7839. PMC 6066365. PMID 30065956.
  24. ^ Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM (October 2019). "A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation". Neurology. Genetics. 5 (5): e357. doi:10.1212/NXG.0000000000000357. ISSN 2376-7839. PMC 6812731. PMID 31750392.
  25. ^ Beaudin M, Sellami L, Martel C, Touzel-Deschênes L, Houle G, Martineau L, Lacroix K, Lavallée A, Chrestian N, Rouleau GA, Gros-Louis F (April 2020). "Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34". Neurology. Genetics. 6 (2): e403. doi:10.1212/NXG.0000000000000403. ISSN 2376-7839. PMC 7073455. PMID 32211516.