PRPF4 gene

pre-mRNA processing factor 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

From UniProt:

Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

From NCBI Gene:

  • Retinitis pigmentosa 70

From UniProt:

Retinitis pigmentosa 70 (RP70): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:615922]

Cytogenetic Location: 9q32, which is the long (q) arm of chromosome 9 at position 32

Molecular Location: base pairs 113,275,634 to 113,292,905 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q32, which is the long (q) arm of chromosome 9 at position 32
  • HPRP4
  • HPRP4P
  • PRP4
  • Prp4p
  • RP70
  • SNRNP60