InterPro domain: IPR040194

This entry represents a group of Cwf19-like proteins, including CWF19L1/2 from humans and Drn1 from budding yeasts. Drn1 modulates turnover of branched RNAs by lariat-debranching enzyme Dbr1 [ 1 ].

Mutations of the CWF19L1 gene has been linked to spinocerebellar ataxia, autosomal recessive, 17 [ 2 ] and autosomal recessive cerebellar ataxia [ 3 ].

1. A homolog of lariat-debranching enzyme modulates turnover of branched RNA. RNA 20, 1337-48
2. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 83, 2175-82
3. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. Eur. J. Hum. Genet. 24, 619-22