MitoProteome Database

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MT001653

UniProt Annotations

Entry Information

Gene Name	age-related maculopathy susceptibility 2
Protein Entry	ARMS2_HUMAN
UniProt ID	P0C7Q2
Species	Human

Comments

Comment type	Description
Disease	Macular degeneration, age-related, 8 (ARMD8) [MIM:613778]: 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. {ECO:0000269\|PubMed:16174643, ECO:0000269\|PubMed:16642439, ECO:0000269\|PubMed:16936732, ECO:0000269\|PubMed:17000705, ECO:0000269\|PubMed:17053108, ECO:0000269\|PubMed:17210852, ECO:0000269\|PubMed:17675241, ECO:0000269\|PubMed:17884985, ECO:0000269\|PubMed:18423869, ECO:0000269\|PubMed:18436811, ECO:0000269\|PubMed:18452766}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Subcellular Location	Cytoplasm {ECO:0000269\|PubMed:16174643, ECO:0000269\|PubMed:19255159}.
Tissue Specificity	Detected in retina and placenta. {ECO:0000269\|PubMed:17884985}.