Gene: TOE1
Alternate names for this Gene:
PCH7|hCaf1z
Gene Summary:
Gene is located in Chromosome:
1
Location in Chromosome :
1p34.1
Description of this Gene:
target of EGR1, exonuclease
Type of Gene:
protein-coding
rs368182654
in
TOE1
gene and
Congenital pontocerebellar hypoplasia type 7
PMID 28092684
2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.