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C8orf34

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C8orf34 is a protein in Homo sapiens that is encoded by the C8orf34 gene. Aliases for C8orf34 include vestibule-1 or VEST-1.

Gene

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The C8orf34 gene is located on the positive-sense strand of chromosome 8 at locus 8q13.2. It is 635 kbp in length and contains 16 exons.[1] Among the seven possible transcripts for C8orf34, the longest is 2452 base pairs.

Location of C8orf34 on human chromosome 8.

Protein

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C8orf34 encodes a protein with associations to several diseases. Mutations within C8orf34 are associated with risk for diarrhea and neutropenia in patients receiving chemotherapy.[2] A translocation causing a fusion of C8orf34 with the MET protooncogene has been found in tissue sample of patients with papillary renal carcinoma.[3]

Homologs

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There are many homologs.[4]

References

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  1. ^ "C8orf34 chromosome 8 open reading frame 34 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-02-26.
  2. ^ Lee, J. S.; Kim, J. Y.; Hwang, J.-A.; S.-Y. Kim; Ghang, H. Y.; Lee, Y.-S.; Shin, E. S.; Han, J.-Y. (2013-10). "A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer". The Pharmacogenomics Journal. 13 (5): 417–422. doi:10.1038/tpj.2012.24. ISSN 1473-1150. {{cite journal}}: Check date values in: |date= (help)
  3. ^ Lengauer, Christoph; Kim, Joseph L.; Schalm, Stefanie; Cerami, Ethan; Stransky, Nicolas (2014-09-10). "The landscape of kinase fusions in cancer". Nature Communications. 5: 4846. doi:10.1038/ncomms5846. ISSN 2041-1723. PMC 4175590. PMID 25204415.{{cite journal}}: CS1 maint: PMC format (link)
  4. ^ The proteomics protocols handbook. Walker, John M., 1948-. Totowa, N.J.: Humana Press. 2005. ISBN 1592598900. OCLC 272404489.{{cite book}}: CS1 maint: others (link)