{"symbol":"AP4B1","synonyms":["CPSQ5","SPG47"],"name":"adaptor-related protein complex 4, beta 1 subunit","description":"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]","ncbiEntrezGeneId":10717,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10717","proteins":[{"symbol":"AP4B1_HUMAN","href":"/api/1.0/protein/AP4B1_HUMAN"}],"hgncRootFamilies":[]}