Human Gene Set: HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT
Standard name
HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT
Systematic name
M46068
Brief description
Increased neuronal autofluorescent lipopigment
Full description or abstract
Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [https://orcid.org/0000-0002-0736-9199, PMID:11406682]