Sandbox Reserved 595: Difference between revisions
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=Background= | =Background= | ||
Apolipoprotein E is a member of the apolipoprotein family. This soluble protein is produced primarily in the liver and brain; and it is located principally in the plasma and in the central nervous system (CNS) (AA). The systemic transport of cholesterol and other lipids is this protein's main role in the body (W). One minor function it may exhibit is that of immune regulation (W). ApoE may also play a role in synaptic integrity and plasticity (R). Particular isoforms, ε2 and ε4 are implicated in hyperlipoproteinemia (HLP III) and late onset Alzheimer's disease (LOAD). | Apolipoprotein E is a member of the apolipoprotein family. This soluble protein is produced primarily in the liver and brain; and it is located principally in the plasma and in the central nervous system (CNS) (AA). The systemic transport of cholesterol and other lipids is this protein's main role in the body (W). One minor function it may exhibit is that of immune regulation (W). ApoE may also play a role in synaptic integrity and plasticity (R). Particular isoforms, ε2 and ε4 are implicated in hyperlipoproteinemia (HLP III) and late onset Alzheimer's disease (LOAD). | ||
=Genetics= | |||
The ApoE gene stores the information responsible for the protein apolipoprotein E. ApoE's cytogenic location is on the long q arm of chromosome 19, in the 13.2 position (19q13.2). It stretches from base pair 45,409,038 to bp 45,412,649 (X). Polymorphisms for this gene include three main alleles, epsilon 2, epsilon 3, and epsilon 4 (W). The ε3 allele is the most frequent in all human groups. ε4 has a higher frequency in populations such as Pygmies and Khoisan, Aboriginies of Malaysia and Australia, Papuas, some Native Americans, and Lapps. The frequency of ε2 fluctuates without an apparent trend; but, it is abscent in Native American populations (W). | |||
=Structure= | =Structure= | ||
<Structure load='1NFN' size='500' frame='true' align='right' caption='3-D Rendering of ApoE3' scene='Insert optional scene name here' /> | <Structure load='1NFN' size='500' frame='true' align='right' caption='3-D Rendering of ApoE3' scene='Insert optional scene name here' /> | ||
