Full name: aprataxin

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 2410016G21Rik; FHA-HIT

Summary: 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 active in nucleus. Predicted to colocalize with chromatin. 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). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in testis adult (RPKM 10.3), CNS E14 (RPKM 4.2) and 26 other tissues

Gene size: 21129bp

Exon count: 10