Primary Identifier | MGI:107246 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 28113 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables telomeric DNA binding activity. Acts upstream of or within negative regulation of telomere maintenance. Located in chromosome, telomeric region. Is expressed in several structures, including genitourinary system; midbrain ventricular layer; olfactory epithelium; telencephalon; and thymus primordium. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in Revesz syndrome and autosomal dominant dyskeratosis congenita 3. Orthologous to human TINF2 (TERF1 interacting nuclear factor 2). PHENOTYPE: Targeted disruption of this gene results in embryonic lethality prior to E7.5 through a mechanism that is independent of telomerase function. [provided by MGI curators] |