Disease-gene associations mined from literature

Literature associating PRPF40A and early infantile epileptic encephalopathy 1

PRPF40A [ENSP00000386458]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM