NP_001093137.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
11,437 Da
NCBI Official Full Name
age-related maculopathy susceptibility protein 2
NCBI Official Synonym Full Names
age-related maculopathy susceptibility 2
NCBI Official Synonym Symbols
NCBI Protein Information
age-related maculopathy susceptibility protein 2
UniProt Protein Name
Age-related maculopathy susceptibility protein 2
UniProt Entry Name
ARMS2_HUMAN
NCBI Summary for ARMS2
This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008]
UniProt Comments for ARMS2
ARMS2: Defects in ARMS2 influence susceptibility to age-related macular degeneration type 8 (ARMD8). ARMD is the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast majority of cases are currently unknown. However, a number of studies have suggested that both genetic and environmental factors are likely to play a role.
Chromosomal Location of Human Ortholog: 10q26.13
Cellular Component: mitochondrion; photoreceptor inner segment
Biological Process: retinal homeostasis
Disease: Macular Degeneration, Age-related, 8
Research Articles on ARMS2
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Diseases associated with ARMS2 blocking peptide
Organs/Tissues associated with ARMS2 blocking peptide
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