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Protein-coding gene in the species Homo sapiens
homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene. PRPF31 is the gene coding for the splicing factor
PRPF31
Gradual retinal degeneration leading to progressive sight loss
pigmentosa. These are PRPF3 (human PRPF3 is HPRPF3; also PRP3), PRPF8, PRPF31 and PAP1. These factors are ubiquitously expressed and it is proposed that
Retinitis_pigmentosa
to a combination of mutations in two genes 1997 Penetrance of dominant PRPF31 mutations is due to variation of the fellow allele 1998 Somatic and germline
Thaddeus_Dryja
Different genetic causes for the same disease
disorder. In retinitis pigmentosa, mutations in several genes, like RHO and PRPF31, can all lead to the same disease. Lastly, phenotypic heterogeneity refers
Genetic_heterogeneity
recessive 1:25,000 Retinitis pigmentosa RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200
List_of_genetic_disorders
Concept in genetics
proliferation. A variation of haploinsufficiency exists for mutations in the gene PRPF31, a known cause of autosomal dominant retinitis pigmentosa. There are two
Haploinsufficiency
Q6P2Q9 12887 PRPF18 HGNC:17351; Q99633 12888 PRPF19 HGNC:17896; Q9UMS4 12889 PRPF31 HGNC:15446; Q8WWY3 12890 PRPF38A HGNC:25930; Q8NAV1 12891 PRPF38B HGNC:25512;
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
Protein-coding gene in the species Homo sapiens
Authiappan V, et al. (2008). "Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India". Mol. Vis. 14: 1105–13. PMC 2426732
IMPDH1
Retinitis pigmentosa-10; 180105; IMPDH1 Retinitis pigmentosa-11; 600138; PRPF31 Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1 Retinitis pigmentosa-13;
List_of_OMIM_disorder_codes
Protein-coding gene in the species Homo sapiens
2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa". Investigative
PRPF3
PRPF31
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PRPF31
Girl/Female
Bengali, Indian
Half; Wealth; Worship
Boy/Male
Arabic, Muslim
Star
Boy/Male
Gujarati, Hindu, Indian
Descendent of Champion
Girl/Female
Gujarati, Hindu, Indian
Goddess Lakshmi; Gold
Surname or Lastname
English
English : variant of Forrest.
Surname or Lastname
English (West Midlands)
English (West Midlands) : habitational name, probably from Blakeway Farm near Much Wenlock, Shropshire. The place name is derived from Old English blæc ‘black’, ‘dark’ + weg ‘road’, ‘path’, ‘way’.
Boy/Male
Anglo, British, English, Latin
Name of a King; Old
Boy/Male
Tamil
Very different
Boy/Male
Muslim
Visitor
Boy/Male
Bengali, Hindu, Indian, Modern
Brave
PRPF31
PRPF31
PRPF31
PRPF31
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