AP5Z1
Description
The AP5Z1 (adaptor related protein complex 5 subunit zeta 1) is a protein-coding gene located on chromosome 7.
AP5Z1, or AP-5 complex subunit zeta, is a protein encoded by the AP5Z1 gene in humans. It is one of the two large subunits of the AP5 adaptor complex. Genetic variations in this gene are linked to SPG48, a form of hereditary spastic paraplegia.
AP5Z1, as part of the AP-5 complex, is likely involved in endosomal transport. Research suggests that it acts as a putative helicase, crucial for efficient homologous recombination DNA double-strand break repair.
AP5Z1 is also known as KIAA0415, SPG48, zeta.
