Apolipoprotein deficiencies are defined as deficiencies in certain protein components of lipoprotein. Because of the various functions of these proteins deficiencies may or may not result in disturbances of various pathophysiological pathways. This may include but is not restricted to dyslipidemias as also coagulation, immune response, tumor and even neuronal degeneration and aging may be influenced.
As there is a lot of redundancy and overlapping in apolipoprotein function the interpretation of abnormalities usually requires to consider all apolipoproteins simultaneously.
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Wang QF et al. (2004) Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons. |
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OMIM.ORG article Omim 107741 |