Description
Component of U4/U6-U5 snRNP complex; involved in second catalytic step of splicing; participates in spliceosomal assembly through its interaction with U1 snRNA; largest and most evolutionarily conserved protein of the spliceosome; mutations in human ortholog, PRPF8, cause Retinitis pigmentosa and missplicing in Myelodysplastic syndrome; mouse ortholog interacts with androgen receptor and may have a role in prostate cancer [Source:SGD;Acc:S000001208]
Gene Synonyms
DBF3, DNA39, RNA8, SLT21, USA2
Location
Chromosome VIII: 429,707-436,948 reverse strand.
R64-1-1:BK006934.2
About this gene
This gene has 1 transcript (splice variant) and 217 orthologues.
Transcripts
