Literature associating FAM172A and CHARGE syndrome
FAM172A [ENSP00000379294]
Cotranscriptional regulator FAM172A; Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity; Belongs to the FAM172 family.
Synonyms: FAM172A, FAM172Ap, hFAM172A, A0A024RAL9, B4DMI0 ...