PRPF31

pre-mRNA processing factor 31

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

From NCBI Gene:

This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]

From UniProt:

Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 11

From UniProt:

Retinitis pigmentosa 11 (RP11): 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:600138]

Cytogenetic Location: 19q13.42, which is the long (q) arm of chromosome 19 at position 13.42

Molecular Location: base pairs 54,115,410 to 54,131,719 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.42, which is the long (q) arm of chromosome 19 at position 13.42
  • NY-BR-99
  • PRP31
  • RP11
  • SNRNP61