Primary Identifier | MGI:1919650 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 72400 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable telomerase RNA binding activity and telomerase inhibitor activity. Predicted to be involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Predicted to act upstream of or within telomere maintenance via telomerase. Predicted to be located in several cellular components, including chromosome; nucleoplasm; and spindle. Predicted to be active in nucleolus. Is expressed in several structures, including central nervous system; liver; lung; mammary gland; and sensory organ. Human ortholog(s) of this gene implicated in hepatocellular carcinoma. Orthologous to human PINX1 (PIN2 (TERF1) interacting telomerase inhibitor 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryonic size, pallor, anemia, and die during organogenesis. Mice heterozygous for a knock-out allele exhibit increased tumor incidence associated with chromosomal instability and elongated telomeres. [provided by MGI curators] |