AP4S1, Official Symbol AP4S1provided by HGNC Official Full Name adaptor related protein complex 4 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:575 See related Ensembl:ENSG00000100478 MIM:607243; AllianceGenome:HGNC:575 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 AP47B; CLA20; CPSQ6; SPG52; CLAPS4 Summary This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in brain (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more Orthologs mouse all