The PPP6R3 gene (also termed C11orf23, PP6R3, SAP190, SAPL, SAPLa, and SAPS3) is located at
band 13.2 on the
long (or "q") arm of
chromosome 11 and is expressed in all tissues tested in humans. It
encodes protein phosphatase 6 regulatory subunit 3 (PP6RS3).
Also termed serine/threonine-protein phosphatase 6 regulatory subunit 3, PP6RS3 is the function-regulating subunit of
protein phosphatase 6 (PPP6C).
PPP6C is a component of a signaling pathway that regulates various cell functions including
cell division,
the repair of damaged DNA,
inflammatory responses,
, and the stability of chromosomes.
Two cases of
nodular fasciitis
Nodular fasciitis (NF) is a benign, soft tissue tumor composed of myofibroblasts (i.e. immature cells that contain features of myocytes and fibroblasts) that typically occurs in subcutaneous tissue (i.e. lowermost layer of the skin), fascia (i. ...
have
malignant tumors in which the
neoplastic cells expressed a ''PPP6R3'' gene merged to the ''USP6'' (i.e. ubiquitin carboxyl-terminal hydrolase 6) gene to form an ''USP-PPP6R3''
fusion gene. In both of these cases, the ''USP-PPP6R3'' fusion genes was considered to contribute to these tumors malignancy.
References
External links
Atlas of Genetics
Genes
Genes on human chromosome 11
{{gene-11-stub