Primary Identifier | MGI:1202709 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 21752 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables telomerase RNA binding activity; telomerase activity; and transcription coactivator binding activity. Involved in positive regulation of Wnt signaling pathway; positive regulation of hair cycle; and positive regulation of stem cell proliferation. Acts upstream of or within positive regulation of D-glucose import. Located in mitochondrion and plasma membrane. Part of telomerase catalytic core complex. Is expressed in several structures, including early conceptus; genitourinary system; hemolymphoid system gland; sensory organ; and skin. Used to study prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant dyskeratosis congenita 2; carcinoma (multiple); gastrointestinal stromal tumor; leukemia (multiple); and melanoma (multiple). Orthologous to human TERT (telomerase reverse transcriptase). PHENOTYPE: In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations. Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele. [provided by MGI curators] |