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Aliases for PRPF8 Gene

Aliases for PRPF8 Gene

  • Pre-MRNA Processing Factor 8 2 3 5
  • 220 KDa U5 SnRNP-Specific Protein 3 4
  • Splicing Factor Prp8 3 4
  • PRP8 Homolog 3 4
  • PRPC8 3 4
  • P220 3 4
  • U5 SnRNP-Specific Protein (220 KD), Ortholog Of S. Cerevisiae Prp8p 3
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (S. Cerevisiae) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog (Yeast) 2
  • PRP8 Pre-MRNA Processing Factor 8 Homolog 3
  • Pre-MRNA-Processing-Splicing Factor 8 3
  • Precursor MRNA Processing Protein 3
  • Apoptosis-Regulated Protein 1 3
  • Apoptosis-Regulated Protein 2 3
  • SNRNP220 3
  • HPRP8 3
  • PRP8 3
  • RP13 3

External Ids for PRPF8 Gene

Previous HGNC Symbols for PRPF8 Gene

  • RP13

Previous GeneCards Identifiers for PRPF8 Gene

  • GC17P001666
  • GC17M001889
  • GC17M001480
  • GC17M001760
  • GC17M001502
  • GC17M001503
  • GC17M001553
  • GC17M001453

Summaries for PRPF8 Gene

Entrez Gene Summary for PRPF8 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPF8 Gene

PRPF8 (Pre-MRNA Processing Factor 8) is a Protein Coding gene. Diseases associated with PRPF8 include Retinitis Pigmentosa 13 and Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity.

UniProtKB/Swiss-Prot for PRPF8 Gene

  • Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Gene Wiki entry for PRPF8 Gene

Additional gene information for PRPF8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF8 Gene

Genomics for PRPF8 Gene

GeneHancer (GH) Regulatory Elements for PRPF8 Gene

Promoters and enhancers for PRPF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I001683 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 575.7 +0.3 313 2.4 HDGF PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 PRPF8 ENSG00000277597 SMYD4 GEMIN4 RPA1 TSR1 METTL16 ENSG00000262434 ENSG00000263345 GC17M001550
GH17I001294 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 139.4 +390.5 390533 1.2 PKNOX1 ATF1 ARNT ZNF493 ZNF133 YBX1 GLI4 ZNF2 BRCA1 ZNF416 PRPF8 SMYD4 RPA1 WDR81 GEMIN4 DPH1 ENSG00000263050 ENSG00000262228 CRK MYO1C
GH17I001293 Enhancer 1.2 ENCODE dbSUPER 139.4 +391.2 391188 0.1 PKNOX1 ARNT YBX1 ZNF2 E2F8 ZNF416 ZNF207 ZNF548 FOS KLF13 PRPF8 SMYD4 RPA1 WDR81 GEMIN4 DPH1 ENSG00000263050 ENSG00000262228 MYO1C HIC1
GH17I001712 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 50 -30.9 -30892 7 MLX DMAP1 YBX1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 WDR81 GC17M001715 MIR22 MIR22HG SMYD4 PRPF8 GEMIN4 RPA1 SERPINF2 METTL16
GH17I001258 Enhancer 1.2 Ensembl ENCODE 75.7 +425.4 425379 1.8 SIN3A ZNF2 ZNF213 ZNF416 ZNF207 ZNF143 ZNF548 KLF13 SP3 ZC3H11A PRPF8 SMYD4 WDR81 RPA1 GEMIN4 ENSG00000262228 DPH1 ENSG00000262920 MYO1C HIC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRPF8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRPF8 gene promoter:

Genomic Locations for PRPF8 Gene

Genomic Locations for PRPF8 Gene
chr17:1,650,629-1,684,882
(GRCh38/hg38)
Size:
34,254 bases
Orientation:
Minus strand
chr17:1,553,923-1,588,176
(GRCh37/hg19)

Genomic View for PRPF8 Gene

Genes around PRPF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF8 Gene

Proteins for PRPF8 Gene

  • Protein details for PRPF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2Q9-PRP8_HUMAN
    Recommended name:
    Pre-mRNA-processing-splicing factor 8
    Protein Accession:
    Q6P2Q9
    Secondary Accessions:
    • O14547
    • O75965

    Protein attributes for PRPF8 Gene

    Size:
    2335 amino acids
    Molecular mass:
    273600 Da
    Quaternary structure:
    • Part of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and SNRNP40. Interacts with EFTUD2 and SNRNP200. Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 (Lys-63-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex. Interacts (via RNase H homology domain) with AAR2 (PubMed:26527271).

    Three dimensional structures from OCA and Proteopedia for PRPF8 Gene

neXtProt entry for PRPF8 Gene

Post-translational modifications for PRPF8 Gene

  • Ubiquitination at isoforms=36, isoforms=43, isoforms=93, isoforms=218, Lys267, isoforms=278, isoforms=301, Lys428, isoforms=442, Lys452, isoforms=460, Lys480, isoforms=525, isoforms=609, Lys702, isoforms=727, Lys746, Lys785, Lys932, isoforms=1020, Lys1158, Lys1210, Lys1222, Lys1300, isoforms=1344, isoforms=1392, Lys1434, Lys1443, Lys1449, isoforms=1463, Lys1732, Lys1735, isoforms=1792, Lys1801, Lys1859, isoforms=1866, Lys1901, Lys2034, Lys2049, Lys2070, and isoforms=2140

Other Protein References for PRPF8 Gene

No data available for DME Specific Peptides for PRPF8 Gene

Domains & Families for PRPF8 Gene

Gene Families for PRPF8 Gene

Suggested Antigen Peptide Sequences for PRPF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P2Q9

UniProtKB/Swiss-Prot:

PRP8_HUMAN :
  • The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.
Domain:
  • The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion.
  • Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved.
  • Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure.
  • Contains a region with structural similarity to RNase H, but lacks RNase H activity.
genes like me logo Genes that share domains with PRPF8: view

Function for PRPF8 Gene

Molecular function for PRPF8 Gene

UniProtKB/Swiss-Prot Function:
Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5 and the 3 splice site.

Phenotypes From GWAS Catalog for PRPF8 Gene

Gene Ontology (GO) - Molecular Function for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000386 second spliceosomal transesterification activity IBA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0005515 protein binding IPI 9774689
GO:0017070 U6 snRNA binding IEA,IBA --
GO:0030619 U1 snRNA binding IBA --
genes like me logo Genes that share ontologies with PRPF8: view
genes like me logo Genes that share phenotypes with PRPF8: view

Human Phenotype Ontology for PRPF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPF8 Gene

Localization for PRPF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF8 Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPF8 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 22720776
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005682 U5 snRNP TAS 9774689
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with PRPF8: view

Pathways & Interactions for PRPF8 Gene

genes like me logo Genes that share pathways with PRPF8: view

Pathways by source for PRPF8 Gene

1 KEGG pathway for PRPF8 Gene

Gene Ontology (GO) - Biological Process for PRPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0000375 RNA splicing, via transesterification reactions TAS 9774689
GO:0000398 mRNA splicing, via spliceosome IEA,TAS --
GO:0006397 mRNA processing TAS 9774689
GO:0008380 RNA splicing TAS 9774689
genes like me logo Genes that share ontologies with PRPF8: view

No data available for SIGNOR curated interactions for PRPF8 Gene

Drugs & Compounds for PRPF8 Gene

(2) Drugs for PRPF8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for PRPF8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRPF8: view

Transcripts for PRPF8 Gene

Unigene Clusters for PRPF8 Gene

PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF8 Gene

No ASD Table

Relevant External Links for PRPF8 Gene

GeneLoc Exon Structure for
PRPF8
ECgene alternative splicing isoforms for
PRPF8

Expression for PRPF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPF8 Gene

Protein differential expression in normal tissues from HIPED for PRPF8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.2) and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPF8 Gene



Protein tissue co-expression partners for PRPF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPF8 Gene:

PRPF8

SOURCE GeneReport for Unigene cluster for PRPF8 Gene:

Hs.181368

mRNA Expression by UniProt/SwissProt for PRPF8 Gene:

Q6P2Q9-PRP8_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PRPF8 Gene

  • Liver(4.9)
  • Eye(4.8)
  • Blood(4.7)
  • Nervous system(4.6)
  • Adrenal gland(3.6)
  • Intestine(3.4)
  • Skin(3)
  • Lung(2.9)
  • Muscle(2.7)
  • Kidney(2.6)
  • Heart(2.4)
  • Pancreas(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPF8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PRPF8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPF8 Gene

Orthologs for PRPF8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF8 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PRPF8 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF8 34
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPF8 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPF8 33 34
  • 92.58 (n)
dog
(Canis familiaris)
Mammalia PRPF8 33 34
  • 92.51 (n)
rat
(Rattus norvegicus)
Mammalia Prpf8 33
  • 90.96 (n)
mouse
(Mus musculus)
Mammalia Prpf8 33 16 34
  • 90.71 (n)
chicken
(Gallus gallus)
Aves PRPF8 33 34
  • 83.01 (n)
lizard
(Anolis carolinensis)
Reptilia PRPF8 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf8 33
  • 80.43 (n)
Str.10952 33
African clawed frog
(Xenopus laevis)
Amphibia prp-8-prov 33
zebrafish
(Danio rerio)
Actinopterygii prpf8 33 34
  • 82.13 (n)
zgc56504 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9025 33
fruit fly
(Drosophila melanogaster)
Insecta CG8877 35
  • 94 (a)
Prp8 33 34
  • 76.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006885 33
  • 77.04 (n)
worm
(Caenorhabditis elegans)
Secernentea prp-8 33 34
  • 71.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR207W 33
  • 60.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP8 33 34 36
  • 59.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05280g 33
  • 59.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SUS2 33
  • 71.34 (n)
soybean
(Glycine max)
eudicotyledons Gma.11337 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3247 33
rice
(Oryza sativa)
Liliopsida Os06g0167000 33
  • 73.13 (n)
Os.4209 33
barley
(Hordeum vulgare)
Liliopsida Hv.3031 33
wheat
(Triticum aestivum)
Liliopsida Ta.5935 33
corn
(Zea mays)
Liliopsida Zm.6553 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2876 34
  • 86 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07832 33
  • 67.41 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spp42 33
  • 64.58 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4625 33
Species where no ortholog for PRPF8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PRPF8 Gene

ENSEMBL:
Gene Tree for PRPF8 (if available)
TreeFam:
Gene Tree for PRPF8 (if available)

Paralogs for PRPF8 Gene

No data available for Paralogs for PRPF8 Gene

Variants for PRPF8 Gene

Sequence variations from dbSNP and Humsavar for PRPF8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs11078563 likely-benign, Retinitis Pigmentosa, Dominant 1,673,075(-) C/T intron_variant
rs11078565 likely-benign, Retinitis Pigmentosa, Dominant 1,677,635(-) G/C coding_sequence_variant, synonymous_variant
rs113849788 benign, uncertain-significance, not specified, Retinitis Pigmentosa, Dominant 1,661,034(-) G/A/C coding_sequence_variant, synonymous_variant
rs114284408 likely-benign, Retinitis Pigmentosa, Dominant 1,676,350(-) C/T coding_sequence_variant, synonymous_variant
rs115404141 likely-benign, Retinitis Pigmentosa, Dominant 1,658,289(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for PRPF8 Gene

Variant ID Type Subtype PubMed ID
nsv9490 CNV loss 18304495
nsv827856 CNV gain 20364138
nsv574211 CNV gain 21841781
nsv1059565 CNV gain 25217958
esv29703 CNV loss 19812545

Variation tolerance for PRPF8 Gene

Residual Variation Intolerance Score: 0.102% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPF8 Gene

Human Gene Mutation Database (HGMD)
PRPF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPF8 Gene

Disorders for PRPF8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PRPF8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRPF8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRP8_HUMAN
  • Retinitis pigmentosa 13 (RP13) [MIM:600059]: 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. {ECO:0000269 PubMed:11468273, ECO:0000269 PubMed:11910553, ECO:0000269 PubMed:12714658, ECO:0000269 PubMed:17317632, ECO:0000269 Ref.36}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PRPF8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRPF8: view

No data available for Genatlas for PRPF8 Gene

Publications for PRPF8 Gene

  1. Structure and function of an RNase H domain at the heart of the spliceosome. (PMID: 18843295) Pena V … Wahl MC (The EMBO journal 2008) 3 4 22 58
  2. Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. (PMID: 17317632) Pena V … Wahl MC (Molecular cell 2007) 3 4 22 58
  3. Prp8 protein: at the heart of the spliceosome. (PMID: 15840809) Grainger RJ … Beggs JD (RNA (New York, N.Y.) 2005) 3 4 22 58
  4. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. (PMID: 12714658) Martínez-Gimeno M … Carballo M (Investigative ophthalmology & visual science 2003) 3 4 22 58
  5. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). (PMID: 11468273) McKie AB … Inglehearn CF (Human molecular genetics 2001) 2 3 4 58

Products for PRPF8 Gene

Sources for PRPF8 Gene

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