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 7.1.0) 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 nucleolus and nucleoplasm. Predicted to be part of chromatin. 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] |