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Gene Review:

C19orf70 - chromosome 19 open reading frame 70

Homo sapiens

Synonyms: P117, Protein P117, Protein QIL1, QIL1

Ren, R.B. et al., D'Abronzo, F.H. et al., Peral, B. et al.

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Disease relevance of P117

We have now identified a nonsense mutation, Tyr3818Stop, in one such family (P117) within the major ADPKD gene, polycystic kidney disease 1 (PKD1) [1].

High impact information on P117

A novel polymorphism was found in 45% of tumors at codon P117 of the ActRIIA gene and was used as a positive control for single stranded conformational polymorphism [2].

Analytical, diagnostic and therapeutic context of P117

Candidate attenuating sequences in VP1 and the 5' noncoding region were identified by comparing the P2/P712 sequence with that of vaccine-associated isolate P2/P117, and the P2/117 sequences were introduced into the P2/Lansing-P2/P712 recombinants by site-directed mutagenesis [3].

References

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Peral, B., Ong, A.C., San Millán, J.L., Gamble, V., Rees, L., Harris, P.C. Hum. Mol. Genet. (1996) [Pubmed]
Mutational analysis of activin/transforming growth factor-beta type I and type II receptor kinases in human pituitary tumors. D'Abronzo, F.H., Swearingen, B., Klibanski, A., Alexander, J.M. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
Identification of two determinants that attenuate vaccine-related type 2 poliovirus. Ren, R.B., Moss, E.G., Racaniello, V.R. J. Virol. (1991) [Pubmed]

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C7H19orf70	Bos taurus
C20H19orf70	Canis lupus familiaris
si:dkey-78l4.14	Danio rerio
LOC100858091	Gallus gallus
LOC702052	Macaca mulatta
2410015M20Rik	Mus musculus
C19H19orf70	Pan troglodytes
LOC100489521	Xenopus (Silurana) tropicalis

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