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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
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
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
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
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
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
PRPF31
PRPF31
PRPF31
PRPF31
Girl/Female
Irish
Beloved.
Boy/Male
Arabic, Hindu, Indian, Muslim
Trustworthy; Trusted
Boy/Male
American, Anglo, Australian, British, English
Hilltop; Steep Hill; Mount
Boy/Male
Hindu, Indian
Devotees
Boy/Male
Egyptian
God of mystery.
Surname or Lastname
English
English : habitational name from a place in Staffordshire called Rawnsley.
Girl/Female
Arabic, Muslim
She was the Daughter of Amer Al-mujashaiyah; She was a Narrator of Hadith
Boy/Male
Indian, Punjabi, Sikh
Brave and Contented
Girl/Female
Biblical
The hand of slander, or of cursing.
Boy/Male
Hindu
The Lord of Dharma
PRPF31
PRPF31
PRPF31
PRPF31
PRPF31