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 Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP4B1 include Spastic Paraplegia 47, Autosomal Recessive and Severe Intellectual Disability And Progressive Spastic Paraplegia. Among its related pathways are Vesicle-mediated transport and Lysosome. GO annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is AP2B1.
UniProtKB/Swiss-Prot for AP4B1 Gene
Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.