Family With Sequence Similarity 189, Member A2 (FAM189A2)

A number sign is used with this entry because one form of Friedreich ataxia (FRDA1) is caused by mutation in the gene encoding frataxin (FXN), which has been mapped to chromosome 9q.By exon trapping, Duclos et al. (1994) isolated X123 within the Friedreich ataxia critical region on chromosome 9q. Northern blot analysis detected a 2.4-kb transcript expressed at high levels in skeletal muscle, with much weaker expression in heart, lung, and brain.Duclos et al. (1994) mapped the X123 gene telomeric to the Friedreich ataxia critical region on chromosome 9q13-q21. X123 lies about 50 kb centromeric to the X11 gene (APBA1) and about 70 kb telomeric to the X104 gene (TJP2).