Proline-reiches Protein PRCC
Das PRCC-Gen kodiert ein Protein, welches beim Splicing der mRNA beteiligt ist. Translokationen, die dieses gen betreffen führen zu papillären Nierenkarzinomen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
de Jong B et al. (1986) Cytogenetics of a renal adenocarcinoma in a 2-year-old child.
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2. |
Meloni AM et al. (1993) Translocation (X;1) in papillary renal cell carcinoma. A new cytogenetic subtype.
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3. |
Sidhar SK et al. (1996) The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene.
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4. |
Weterman MA et al. (1996) Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.
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5. |
Weterman MA et al. (2001) Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma.
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6. |
Orphanet article
Orphanet ID 117989
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7. |
NCBI article
NCBI 5546
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8. |
OMIM.ORG article
Omim 179755
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Update: 14. August 2020