| Primary Identifier | MGI:1920086 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 72836 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables single-stranded telomeric DNA binding activity and small GTPase binding activity. Acts upstream of or within several processes, including cellular senescence; negative regulation of DNA recombination at telomere; and protection from non-homologous end joining at telomere. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including brain; genitourinary system; liver; musculature; and spleen. Human ortholog(s) of this gene implicated in colorectal cancer; familial melanoma; hepatocellular carcinoma; lung cancer; and ovarian cancer. Orthologous to human POT1 (protection of telomeres 1). PHENOTYPE: Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
