Pre-Mrna-Processing Factor 6 (PRPF6) ELISA Kit for Human

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]

PRPF6: Involved in pre-mRNA splicing. May act in the tri-snRNP complex as a bridging factor between U5 and U4/U6 snRNPs in the late step of spliceosome assembly. May be necessary for tri-snRNP formation. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. Defects in PRPF6 may be the cause of retinitis pigmentosa type 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. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Nuclear receptor co-regulator; RNA splicing; RNA-binding; Spliceosome

Chromosomal Location of Human Ortholog: 20q13.33

Cellular Component: membrane; nuclear speck; nucleoplasm; nucleus; snRNP U5; spliceosomal complex; U4/U6 x U5 tri-snRNP complex

Molecular Function: androgen receptor binding; protein binding; ribonucleoprotein complex binding; RNA binding; transcription coactivator activity

Biological Process: mRNA splicing, via spliceosome; positive regulation of transcription from RNA polymerase II promoter; RNA localization; RNA splicing; RNA splicing, via transesterification reactions; spliceosomal complex assembly; spliceosomal tri-snRNP complex assembly

Disease: Retinitis Pigmentosa 60