| Primary Identifier | MGI:2139369 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 269400 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA helicase activity and DNA polymerase binding activity. Involved in DNA duplex unwinding; DNA metabolic process; and regulation of DNA metabolic process. Acts upstream of or within telomere maintenance. Located in chromosome, telomeric region and nucleus. Is expressed in crypt of lieberkuhn; germ cell of testis; seminiferous tubule; and trophectoderm. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive dyskeratosis congenita 5; female breast cancer; gastric adenocarcinoma; high grade glioma (multiple); and lung disease (multiple). Orthologous to human RTEL1 (regulator of telomere elongation helicase 1). PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells. [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
