Pre-mRNA-Processing Factor 8

Alternative Names

  • PRPF8
  • Precursor mRNA-Processing Factor 8, S. Cerevisiae, Homolog Of
  • PRP8
  • PRPC8
  • U5 snRNP-Specific Protein, 220-Kd

Associated Diseases

Retinitis Pigmentosa 13
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OMIM Number

607300

NCBI Gene ID

10594

Uniprot ID

Q6P2Q9

Length

34,252 bases

No. of Exons

43

No. of isoforms

1

Protein Name

Pre-mRNA-processing-splicing factor 8

Molecular Mass

273600 Da

Amino Acid Count

2335

Genomic Location

chr17:1,650,628-1,684,879

Gene Map Locus
17p13.3

Description

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_006445.4:c.6928A>GUnited Arab EmiratesNC_000017.11:g.1650882T>CLikely Pathogenic,PathogenicRetinitis Pigmentosa 13NG_009118.1:g.39001A>G; NM_006445.4:c.6928A>G; NP_006436.3:p.Arg2310Gly752997229438226
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