Aliases for AP4B1 Gene
External Ids for AP4B1 Gene
Previous Symbols 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 hypertonia and spastic paraplegia 47, autosomal recessive. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP1B1.
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