Literature associating PRPF40A and early infantile epileptic encephalopathy 1
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae); Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing; Spliceosomal A complex
Synonyms: PRPF40A, PRPF40Ap, hPRPF40A, F5H578, FNBP3 ...