Primary Identifier | MGI:2141503 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 101185 |
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. Acts upstream of or within chromosome organization. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including basisphenoid bone; brain; genitourinary system; musculature; and otic capsule. 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: Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture. [provided by MGI curators] |