Aliases for AP4S1 Gene
External Ids for AP4S1 Gene
Previous GeneCards Identifiers for AP4S1 Gene
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]
GeneCards Summary for AP4S1 Gene
AP4S1 (Adaptor-Related Protein Complex 4, Sigma 1 Subunit) is a Protein Coding gene. Diseases associated with AP4S1 include spastic paraplegia 52, autosomal recessive and spastic paraplegia 51. Among its related pathways are Lysosome. GO annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP1S2.
UniProtKB/Swiss-Prot for AP4S1 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