Ap4s1 - adaptor-related protein complex AP-4, sigma 1 Gene
Species: Mus musculus
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]
Ap4s1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001329698.1 | NP_001316627.1 | AP-4 complex subunit sigma-1 isoform 1 |
| NM_001329699.1 | NP_001316628.1 | AP-4 complex subunit sigma-1 isoform 3 |
| NM_021710.4 | NP_068356.1 | AP-4 complex subunit sigma-1 isoform 2 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
AP-4 complex subunit sigma-1 |
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