DISEASES

Disease-gene associations mined from literature

Literature associating PRPF31 and isolated growth hormone deficiency type IA

PRPF31 [ENSP00000324122]

U4/U6 small nuclear ribonucleoprotein Prp31; Involved in pre-mRNA splicing as component of the spliceosome . Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome .

Synonyms:  PRPF31,  PRPF31p,  hPRPF31,  E7EN72,  E7ESX0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM