Primary Identifier | MGI:1344345 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 24061 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity and mediator complex binding activity. Acts upstream of or within meiotic cell cycle and somatic stem cell population maintenance. Located in nucleus. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2; congestive heart failure; and developmental and epileptic encephalopathy 85. Orthologous to human SMC1A (structural maintenance of chromosomes 1A). PHENOTYPE: Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure. [provided by MGI curators] |