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Gene Review:

DIRC1 - disrupted in renal carcinoma 1

Homo sapiens

Synonyms: Disrupted in renal cancer protein, Disrupted in renal carcinoma protein 1

Druck, T. et al.

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Disease relevance of DIRC1

Further studies will be required to determine if disruption of the DIRC1 gene contributed to development of the associated familial clear cell renal cancers [1].

High impact information on DIRC1

This 57-kb gene, designated the DIRC1 gene, was disrupted between exons 1 and 2 by the familial translocation [1].
A panel of cancer and cancer-derived cell line DNAs was examined for DIRC1 mutations, but only a rare polymorphism was observed [1].
The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation [1].
Low-level expression of DIRC1 was detected by reverse transcriptase-polymerase chain reaction amplification in adult placenta, testis, ovary, and prostate and in fetal kidney, spleen, and skeletal muscle [1].

References

The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. Druck, T., Podolski, J., Byrski, T., Wyrwicz, L., Zajaczek, S., Kata, G., Borowka, A., Lubinski, J., Huebner, K. J. Hum. Genet. (2001) [Pubmed]

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