Literature associating AP5S1 and hereditary spastic paraplegia 48
AP5S1 [ENSP00000481750]
AP-5 complex subunit sigma-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair.
Synonyms: AP5S1, AP5S1p, hAP5S1, A2A2L4, Q5JX74 ...