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Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
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| Identifiers | ||
| Symbol(s) | ELOVL4; ADMD; STGD2; STGD3 | |
| External IDs | OMIM: 605512 MGI: 1933331 HomoloGene: 41488 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 6785 | 83603 |
| Ensembl | ENSG00000118402 | ENSMUSG00000032262 |
| Uniprot | Q9GZR5 | Q8JZV3 |
| Refseq | NM_022726 (mRNA) NP_073563 (protein) |
NM_148941 (mRNA) NP_683743 (protein) |
| Location | Chr 6: 80.68 - 80.71 Mb | Chr 9: 83.58 - 83.6 Mb |
| Pubmed search | [1] | [2] |
Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, also known as ELOVL4, is a human gene. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [1]
References
Further reading
- 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.
- 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.
- 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.
- Zhang K, Kniazeva M, Han M, et al. (2001). "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. ". Nat. Genet. 27 (1): 89-93. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11138005.
- 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. PMID 11474659.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 12477932.
- 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.
- 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.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6. ". Nature 425 (6960): 805-11. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14574404.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 14702039.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15028284.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 15489334.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16036915.
- 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. PMID 16364203.
- 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. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16476896.
- 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. PMID 17356513.
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