ELOVL4

ELOVL4
Identificadores
Nomes alternativos	ELOVL4
IDs externos	OMIM: 605512 HomoloGene: 41488 GeneCards: ELOVL4
Doenças Geneticamente Relacionadas
	spinocerebellar ataxia type 34, congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Ontologia genética
Função molecular	• transferase activity; • G protein-coupled photoreceptor activity; • GO:0001948, GO:0016582 ligação a proteínas plasmáticas; • 3-oxo-arachidoyl-CoA synthase activity; • 3-oxo-cerotoyl-CoA synthase activity; • 3-oxo-lignoceronyl-CoA synthase activity; • fatty acid elongase activity; • very-long-chain 3-ketoacyl-CoA synthase activity;
Componente celular	• integral component of membrane; • integral component of endoplasmic reticulum membrane; • endoplasmic reticulum membrane; • retículo endoplasmático; • membrane;
Processo biológico	• fatty acid biosynthetic process; • fatty acid metabolic process; • metabolismo dos lipídios; • fatty acid elongation, saturated fatty acid; • very long-chain fatty acid biosynthetic process; • detection of visible light; • sphingolipid biosynthetic process; • fatty acid elongation, monounsaturated fatty acid; • fatty acid elongation, polyunsaturated fatty acid; • unsaturated fatty acid biosynthetic process; • long-chain fatty-acyl-CoA biosynthetic process;
	Sources:Amigo / QuickGO
Padrão de expressão RNA
	Mais dados de referência de expressão
Ortólogos
	6785
	n/a
	ENSG00000118402
	n/a
	Q9GZR5
	n/a
	NM_022726
	n/a
	NP_073563
	n/a
	Wikidata
Ver/Editar Humano

O alongamento da proteína 4 de ácidos graxos de cadeia muito longa é uma proteína que, em humanos, é codificada pelo gene ELOVL4.^[3]^[4]

Leitura adicional editar

Zhang K; Bither PP; Park R; et al. (1994). «A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34». Arch. Ophthalmol. 112 (6): 759–64. PMID 8002833. doi:10.1001/archopht.1994.01090180057035
Stone EM; Nichols BE; Kimura AE; et al. (1994). «Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q». Arch. Ophthalmol. 112 (6): 765–72. PMID 8002834. doi:10.1001/archopht.1994.01090180063036
Edwards AO; Miedziak A; Vrabec T; et al. (1999). «Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14». Am. J. Ophthalmol. 127 (4): 426–35. PMID 10218695. doi:10.1016/S0002-9394(98)00331-6
Li Y; Marcos I; Borrego S; et al. (2001). «Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus». J. Med. Genet. 38 (7): 478–80. PMC 1757187 . PMID 11474659. doi:10.1136/jmg.38.7.478
Edwards AO, Donoso LA, Ritter R (2001). «A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family». Invest. Ophthalmol. Vis. Sci. 42 (11): 2652–63. PMID 11581213
Strausberg RL; Feingold EA; Grouse LH; et al. (2003). «Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences». Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899
Rivolta C; Ayyagari R; Sieving PA; et al. (2003). «Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis». Mol. Vis. 9: 49–51. PMID 12592226
Lagali PS; Liu J; Ambasudhan R; et al. (2003). «Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina». Invest. Ophthalmol. Vis. Sci. 44 (7): 2841–50. PMID 12824221. doi:10.1167/iovs.02-0991
Vrabec TR; Tantri A; Edwards A; et al. (2003). «Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene». Am. J. Ophthalmol. 136 (3): 542–5. PMID 12967813. doi:10.1016/S0002-9394(03)00227-7
Mungall AJ; Palmer SA; Sims SK; et al. (2003). «The DNA sequence and analysis of human chromosome 6». Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. PMID 14574404. doi:10.1038/nature02055
Ota T; Suzuki Y; Nishikawa T; et al. (2004). «Complete sequencing and characterization of 21,243 full-length human cDNAs». Nat. Genet. 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285
Ambasudhan R; Wang X; Jablonski MM; et al. (2004). «Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein». Genomics. 83 (4): 615–25. PMID 15028284. doi:10.1016/j.ygeno.2003.10.004
Gerhard DS; Wagner L; Feingold EA; et al. (2004). «The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)». Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504
Grayson C, Molday RS (2005). «Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4». J. Biol. Chem. 280 (37): 32521–30. PMID 16036915. doi:10.1074/jbc.M503411200
Lai Z; Zhang XN; Zhou W; et al. (2006). «Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy». J. Cell. Mol. Med. 9 (4): 961–5. PMC 6740257 . PMID 16364203. doi:10.1111/j.1582-4934.2005.tb00392.x
Hubbard AF; Askew EW; Singh N; et al. (2006). «Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation». Arch. Ophthalmol. 124 (2): 257–63. PMID 16476896. doi:10.1001/archopht.124.2.257
Seitsonen S; Lemmelä S; Holopainen J; et al. (2006). «Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population». Mol. Vis. 12: 796–801. PMID 16885922
McMahon A; Butovich IA; Mata NL; et al. (2007). «Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4». Mol. Vis. 13: 258–72. PMC 2633486 . PMID 17356513

Referências

↑ «Doenças geneticamente associadas a ELOVL4 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ 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 (janeiro de 2001). «A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy». Nat Genet. 27 (1): 89–93. PMID 11138005. doi:10.1038/83817
↑ «Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4»

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[1] «Doenças geneticamente associadas a ELOVL4 ver/editar referências no wikidata»

[2] «Human PubMed Reference:»

[pmid11138005-3] 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 (janeiro de 2001). «A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy». Nat Genet. 27 (1): 89–93. PMID 11138005. doi:10.1038/83817

[entrez-4] «Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4»

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