AP4B1, Official Symbol AP4B1provided by HGNC Official Full Name adaptor related protein complex 4 subunit beta 1provided by HGNC Primary source HGNC:HGNC:572 See related Ensembl:ENSG00000134262 MIM:607245; AllianceGenome:HGNC:572 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPSQ5; SPG47; BETA-4 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 6.1), spleen (RPKM 5.4) and 25 other tissues See more Orthologs mouse all