Entity Details

Primary name ARMS2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP0C7Q2
EntryNameARMS2_HUMAN
FullNameAge-related maculopathy susceptibility protein 2
TaxID9606
Evidenceevidence at protein level
Length107
SequenceStatuscomplete
DateCreated2008-07-01
DateModified2021-06-02

Ontological Relatives

GenesARMS2

GO terms

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

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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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.