Primary Identifier | MGI:1927144 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 64010 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; protein serine/threonine kinase activator activity; and transcription regulator activator activity. Involved in hippo signaling. Acts upstream of or within several processes, including epithelial cell differentiation; negative regulation of cell population proliferation; and positive regulation of keratinocyte apoptotic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytosol. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study colonic disease and hepatocellular carcinoma. Orthologous to human SAV1 (salvador family WW domain containing protein 1). PHENOTYPE: Homozygotes for a null allele display fetal growth retardation and lethality, show multiple tissue hyperplasia and dysplasia due to unchecked proliferation and impaired terminal differentiation of epithelial cells, and develop hepatomas. Heterozygotes are prone to tumorigenesis and die prematurely. [provided by MGI curators] |