Gene Symbol | AP4E1 |
Entrez Gene ID | 23431 |
Full Name | adaptor related protein complex 4 epsilon 1 subunit |
Synonyms | CPSQ4,SPG51,STUT1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 51, autosomal recessive, 613744 (3); Stuttering, familial persistent, 1, 184450 (3) |