1x4q

Structural highlights

Disease

PRPF3_HUMAN Defects in PRPF3 are the cause of retinitis pigmentosa type 18 (RP18) [MIM:601414. RP leads to degeneration of retinal photoreceptor cells. 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. RP18 inheritance is autosomal dominant.^{[1] [2] [3]}

Function

PRPF3_HUMAN Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Nucleoprotein 3D structures
• Pre-mRNA splicing factors 3D structures

References

1. ↑ Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 1;11(1):87-92. PMID:11773002
2. ↑ Martinez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Milla E, Ayuso C, Garcia-Sandoval B, Beneyto M, Vilela C, Baiget M, Antinolo G, Carballo M. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. PMID:12714658
3. ↑ Gonzalez-Santos JM, Cao H, Duan RC, Hu J. Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. Hum Mol Genet. 2008 Jan 15;17(2):225-39. Epub 2007 Oct 11. PMID:17932117 doi:ddm300