Primary Identifier | MGI:1913658 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 66408 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA 5'-adenosine monophosphate hydrolase activity. Involved in single strand break repair. Acts upstream of or within DNA ligation. Predicted to be located in chromatin; nucleolus; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin). PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair. [provided by MGI curators] |