Entity Details

Primary name ARMS2
Entity type gene
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Details

PrimaryID387715
RefseqGeneNG_011725
SymbolARMS2
Nameage-related maculopathy susceptibility 2
Chromosome10
Location10q26.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsARMS2_HUMAN

GO terms

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GOName
GO:0001895 retina homeostasis
GO:0001917 photoreceptor inner segment
GO:0005739 mitochondrion

Diseases

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Disease IDSourceNameDescription
613778 OMIMMacular degeneration, age-related, 8 (ARMD8)A form of age-related macular degeneration, a multifactorial eye disease and 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 that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Disease susceptibility is associated with variants affecting the gene represented in this entry.