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Age Related Maculopathy Susceptibility 2 (ARMS2)

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Age Related Maculopathy Susceptibility 2 (ARMS2)
CCC J965
HGNC 32685
PubMed 19823576
UniProt P0C7Q2
Wiki ARMS2
Kanda et al. (2007) reported that ARMS2 encodes a deduced 107-amino acid protein with 9 predicted phosphorylation sites and a molecular mass of 12 kD. By RT-PCR analysis, they detected ARMS2 transcripts in retina and in a variety of other tissues and cell lines. Transfection experiments in mammalian cells localized the protein to the mitochondrial outer membrane.
Fritsche et al. (2008) confirmed the findings of Kanda et al. (2007) and further defined the retinal localization of ARMS2 to the ellipsoid region of the photoreceptors.The ARMS2 gene resides in chromosome 10q26.13, in a region associated with susceptibility to age-related macular degeneration.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Age Related Maculopathy Susceptibility 2 (ARMS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Age Related Maculopathy Susceptibility 2 (ARMS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Age Related Maculopathy Susceptibility 2 (ARMS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Age Related Maculopathy Susceptibility 2 (ARMS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Age Related Maculopathy Susceptibility 2 (ARMS2) ELISA Kit Customized Service Offer
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  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA."Nat. Genet. 40:892-896(2008) [PubMed] [Europe PMC] [Abstract]
  4. "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. 14:3227-3236(2005) [PubMed] [Europe PMC] [Abstract]
  5. "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration."Proc. Natl. Acad. Sci. U.S.A. 104:16227-16232(2007) [PubMed] [Europe PMC] [Abstract]
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  7. "Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration."Am. J. Hum. Genet. 78:852-864(2006) [PubMed] [Europe PMC] [Abstract]
  8. "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses."Hum. Mol. Genet. 15:3206-3218(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration."Nat. Genet. 38:1055-1059(2006) [PubMed] [Europe PMC] [Abstract]
  10. "HTRA1 promoter polymorphism in wet age-related macular degeneration."Science 314:989-992(2006) [PubMed] [Europe PMC] [Abstract]
  11. "A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors."Arch. Ophthalmol. 125:55-62(2007) [PubMed] [Europe PMC] [Abstract]
  12. "Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients."Invest. Ophthalmol. Vis. Sci. 49:1771-1776(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Age-related macular degeneration genetics."Ophthalmology 115:916-916(2008) [PubMed] [Europe PMC] [Abstract]
  14. "The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study."Ophthalmology 115:693-699(2008) [PubMed] [Europe PMC] [Abstract]
  15. "CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration."Ophthalmology 115:1019-1025(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria."Invest. Ophthalmol. Vis. Sci. 50:3084-3090(2009) [PubMed] [Europe PMC] [Abstract]