SAPS2 Background Information
SAPS2 (SAPS domain family, member 2), also known as PP6R2, KIAA0685 or SAP190, is a 966 amino acid protein that localizes to the cytoplasm and exists as multiple alternatively spliced isoforms. Expressed ubiquitously with strongest levels present in testis, heart, liver, brain, kidney and placenta, SAPS2 functions as a regulatory subunit of the PP6 (protein phosphatase 6) holoenzyme that may play a role in protein scaffolding and I˚B-ε degradation. The gene encoding SAPS2 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
