AP5S1
Description
The AP5S1 (adaptor related protein complex 5 subunit sigma 1) is a protein-coding gene located on chromosome 20.
AP5S1 is a protein encoded by the AP5S1 gene in humans. It is the small subunit of the AP5 adaptor complex. While no diseases have been linked to variants in AP5S1, damaging variants in AP5Z1 (encoding a large subunit of AP-5) are associated with SPG48, a type of hereditary spastic paraplegia. Additionally, damaging variants in genes encoding proteins that associate with AP-5 (SPG11 and ZFYVE26) are linked to other types of hereditary spastic paraplegia.
AP5S1 is also known as C20orf29.
