PRPF18 pre-mRNA processing factor 18

Gene ID: 8559, updated on 2-Nov-2024
Gene type: protein coding
Also known as: PRP18; hPrp18

Summary

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. GeneReviews: Not available
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. GeneReviews: Not available

Genomic context

Location:: 10p13

Sequence:: Chromosome: 10; NC_000010.11 (13586965..13655929)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRPF18 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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