ARMS2
| Age-related maculopathy susceptibility 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | ARMS2 ; ARMD8 | ||||||||||
| External IDs | OMIM: 611313 HomoloGene: 88167 GeneCards: ARMS2 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 387715 | n/a | |||||||||
| Ensembl | ENSG00000254636 | n/a | |||||||||
| UniProt | P0C7Q2 | n/a | |||||||||
| RefSeq (mRNA) | NM_001099667 | n/a | |||||||||
| RefSeq (protein) | NP_001093137 | n/a | |||||||||
| Location (UCSC) |
Chr 10: 122.45 – 122.46 Mb | n/a | |||||||||
| PubMed search | n/a | ||||||||||
Age-related maculopathy susceptibility protein 2, is a mitochondrial protein that in humans is encoded by the ARMS2 gene.[1][2][3]
References
- ↑ Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (Aug 2005). "Susceptibility genes for age-related maculopathy on chromosome 10q26". Am J Hum Genet 77 (3): 389–407. doi:10.1086/444437. PMC 1226205. PMID 16080115.
- ↑ Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH (Oct 2005). "Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk". Hum Mol Genet 14 (21): 3227–36. doi:10.1093/hmg/ddi353. PMID 16174643.
- ↑ "Entrez Gene: ARMS2 age-related maculopathy susceptibility 2".
Further reading
- 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:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Schmidt S, Hauser MA, Scott WK; et al. (2006). "Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.". Am. J. Hum. Genet. 78 (5): 852–64. doi:10.1086/503822. PMC 1474047. PMID 16642439.
- Shastry BS (2006). "Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration.". Ophthalmologica 220 (5): 291–5. doi:10.1159/000094617. PMID 16954704.
- Conley YP, Jakobsdottir J, Mah T; et al. (2006). "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.". Hum. Mol. Genet. 15 (21): 3206–18. doi:10.1093/hmg/ddl396. PMID 17000705.
- Tanimoto S, Tamura H, Ue T; et al. (2007). "A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.". Neurosci. Lett. 414 (1): 71–4. doi:10.1016/j.neulet.2006.12.011. PMID 17194541.
- Shastry BS (2007). "Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).". J. Hum. Genet. 52 (4): 384–7. doi:10.1007/s10038-007-0120-y. PMID 17285240.
- Ross RJ, Bojanowski CM, Wang JJ; et al. (2007). "The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples.". Invest. Ophthalmol. Vis. Sci. 48 (3): 1128–32. doi:10.1167/iovs.06-0999. PMC 1885234. PMID 17325155.
- Francis PJ, George S, Schultz DW; et al. (2007). "The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.". Hum. Hered. 63 (3-4): 212–8. doi:10.1159/000100046. PMID 17347568.
- Chen D, Langford MP, Duggan C; et al. (2007). "Expression of recombinant protein encoded by LOC387715 in Escherichia coli.". Protein Expr. Purif. 54 (2): 275–82. doi:10.1016/j.pep.2007.03.017. PMC 2780029. PMID 17485225.
- Kondo N, Honda S, Ishibashi K; et al. (2007). "LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population.". Am. J. Ophthalmol. 144 (4): 608–12. doi:10.1016/j.ajo.2007.06.003. PMID 17692272.
- Wiggs JL (2007). "Macular degeneration: risk factors for progression.". Arch. Ophthalmol. 125 (9): 1264–5. doi:10.1001/archopht.125.9.1264. PMID 17846368.
- Kanda A, Chen W, Othman M; et al. (2007). "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.". Proc. Natl. Acad. Sci. U.S.A. 104 (41): 16227–32. doi:10.1073/pnas.0703933104. PMC 1987388. PMID 17884985.
- Brantley MA, Fang AM, King JM; et al. (2007). "Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab.". Ophthalmology 114 (12): 2168–73. doi:10.1016/j.ophtha.2007.09.008. PMID 18054635.
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