AP4E1

AP-4 complex subunit epsilon-1 is a is_associated_with::protein that in humans is encoded by the AP4E1 is_associated_with::gene.

Function
The is_associated_with::heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (is_associated_with::AP4B1) and epsilon-4 (AP4E1; this gene), a medium chain, mu-4 (is_associated_with::AP4M1), and a small chain, sigma-4 (is_associated_with::AP4S1).

Clinical relevance
It is currently hypothesized that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.

Model organisms
is_associated_with::Model organisms have been used in the study of AP4E1 function. A conditional is_associated_with::knockout mouse line, called Ap4e1tm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on is_associated_with::homozygous is_associated_with::mutant mice and four significant abnormalities were observed. Females displayed decreased vertical activity in an is_associated_with::open field test, had an abnormal is_associated_with::complete blood count, is_associated_with::hypoferremia, and a decreased is_associated_with::corpus callosum size and enlarged is_associated_with::lateral ventricles.