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...
12 KB (1,545 words) - 21:58, 18 August 2023
pigmentosa. These are PRPF3 (human PRPF3 is HPRPF3; also PRP3), PRPF8, PRPF31 and PAP1. These factors are ubiquitously expressed and it is proposed that...
63 KB (6,338 words) - 18:53, 1 October 2024
splicing substrate affected by PRPF31 protein, meaning that rhodopsin (RHO) is among the target splicing substrate genes for PRPF31. Thus it can be understood...
38 KB (4,009 words) - 11:01, 3 December 2023
recessive 1:25,000 Retinitis pigmentosa RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200...
42 KB (983 words) - 18:14, 6 October 2024
proliferation. A variation of haploinsufficiency exists for mutations in the gene PRPF31, a known cause of autosomal dominant retinitis pigmentosa. There are two...
11 KB (1,181 words) - 01:44, 9 February 2024
Q6P2Q9 12883 PRPF18 HGNC:17351 Q99633 12884 PRPF19 HGNC:17896 Q9UMS4 12885 PRPF31 HGNC:15446 Q8WWY3 12886 PRPF38A HGNC:25930 Q8NAV1 12887 PRPF38B HGNC:25512...
282 KB (17 words) - 18:42, 6 October 2024
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...
9 KB (1,110 words) - 14:50, 23 February 2024
2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa". Investigative...
9 KB (1,048 words) - 11:39, 23 July 2024
Retinitis pigmentosa-10; 180105; IMPDH1 Retinitis pigmentosa-11; 600138; PRPF31 Retinitis pigmentosa-12, autosomal recessive; 600105; CRB1 Retinitis pigmentosa-13;...
234 KB (18,877 words) - 15:43, 9 May 2024