Aliases for AP4B1 Gene
External Ids for AP4B1 Gene
Previous HGNC Symbols for AP4B1 Gene
Previous GeneCards Identifiers for AP4B1 Gene
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for AP4B1 Gene
AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1) is a Protein Coding gene. Diseases associated with AP4B1 include Spastic Paraplegia 47, Autosomal Recessive and Ap-4-Associated Hereditary Spastic Paraplegia. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is AP2B1.
UniProtKB/Swiss-Prot Summary for AP4B1 Gene
Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).