PRPF6 gene

pre-mRNA processing factor 6

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

From NCBI Gene:

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

From UniProt:

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.

From NCBI Gene:

  • Retinitis pigmentosa 60

From UniProt:

Retinitis pigmentosa 60 (RP60): 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:613983]

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33

Molecular Location: base pairs 63,981,069 to 64,033,100 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33
  • ANT-1
  • ANT1
  • C20orf14
  • hPrp6
  • Prp6
  • RP60
  • SNRNP102
  • TOM
  • U5-102K