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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

TUBA3C  -  tubulin, alpha 3c

Homo sapiens

Synonyms: TUBA2, bA408E5.3
 
 
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High impact information on TUBA3C

  • This map spans 347 cR9000, has an average resolution of 17.3 cR9000, and includes 3 genes (TUBA2, GJbeta2, and FGF-9), 18 ESTs, 19 polymorphic loci, and 8 single-copy DNA segments [1].
  • Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2) [2].
  • However, the present data offer the possibility of testing the involvement of the TUBA2 gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region [2].
  • YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region [3].
  • Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig [3].
 

Anatomical context of TUBA3C

 

Associations of TUBA3C with chemical compounds

  • The metabolism of adenosine to the nucleotide level in TUBA2 cells appears to be initiated via deribosylation to adenine [4].
  • The TUBA2 clone was also 1000-fold less sensitive than the parental line to growth inhibition by formycin A, another cytotoxic adenosine analog [4].

References

  1. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. Kibar, Z., Lafrenière, R.G., Chakravarti, A., Wang, J.C., Chevrette, M., Der Kaloustian, V.M., Rouleau, G.A. Genomics (1999) [Pubmed]
  2. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). Dodé, C., Weil, D., Levilliers, J., Crozet, F., Chaïb, H., Levi-Acobas, F., Guilford, P., Petit, C. Genomics (1998) [Pubmed]
  3. A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). Guilford, P., Dodé, C., Crozet, F., Blanchard, S., Chaïb, H., Levilliers, J., Levi-Acobas, F., Weil, D., Weissenbach, J., Cohen, D. Genomics (1995) [Pubmed]
  4. Characterization of a mutant Leishmania donovani deficient in adenosine kinase activity. Iovannisci, D.M., Ullman, B. Mol. Biochem. Parasitol. (1984) [Pubmed]
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