| Primary Identifier | MGI:87873 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 497652 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables telomeric DNA binding activity. Involved in protection from non-homologous end joining at telomere. Acts upstream of or within several processes, including embryonic limb morphogenesis; skeletal system development; and urogenital system development. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including adrenal gland; central nervous system; genitourinary system; hemolymphoid system gland; and liver. Human ortholog(s) of this gene implicated in autosomal dominant dyskeratosis congenita 6. Orthologous to human ACD (ACD shelterin complex subunit and telomerase recruitment factor). PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [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
