Gene Symbol | AP4S1 |
Entrez Gene ID | 11782 |
Full Name | adaptor-related protein complex AP-4, sigma 1 |
Synonyms | AI314282 |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(House mouse) |
Genome | |
Summary | This gene encodes the sigma subunit of the adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. |