CP+AP4E1+Gene


 * The AP Family and the AP4E1 Gene **



The adaptor protein (AP) complexes are a group of genes which play a role in various sorting processes in the human body. There are four subtypes within the AP complexes and they are: AP-1, AP-2, AP-3, and AP-4 families. Here we will focus on the **AP-4 family**.

The AP-4 complex family consists of four members: AP4E1, AP4B1, AP4M1, and AP4S1. The AP-4 family plays a significant role in mediating the sorting and trafficking of integral membrane proteins. During the embryological and postnatal developmental stages, the AP-4 family is expressed and found in neurons in great quantities (Moreno-De-Luca, A., et al., 2011).

There is a large amount of evidence suggesting that disruption in any of the AP families results in a dysfunctional system and can have a negative effect on the whole complex. Many of these disruptions have been linked to human disorders that have similar symptoms to those of Cerebral Palsy. To give an example we can take a look at the AP-1 family, and more specifically the AP1S2 member of that family. It was found that a mutation of the AP1S2 gene can cause an X-linked intellectual disorder with symptoms including muscular hypotonia, and speech and walking delays (Jamra, R. A., et al., 2011). All three of these symptoms can be seen in individuals with CP.

Research is now being done to suggest that the AP4E1 gene may play a role in the etiology of Cerebral Palsy and other similar intellectual disorders. The AP4E1 gene is found on chromosome 15 and is seen in the figure above marked by a red dash. Deletions or mutations in the AP4E1 gene result in highly similar symptoms as those found in patients with CP and studies have been conducted to strengthen the hypothesis that certain types of CP arise due to the disruption of the AP4E1 gene.

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