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Gene Review

ITM2C  -  integral membrane protein 2C

Homo sapiens

Synonyms: BRI3, BRICD2C, Cerebral protein 14, E25, E25C, ...
 
 
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Disease relevance of ITM2C

  • CVB1-4, E11, and E25 were significantly more common, whereas CVA16, E4, E9, E21, E30, and human parechovirus 1 (formerly E22) were less common among neonates than among persons aged >/=1 month [1].
 

High impact information on ITM2C

  • Sustained hypoxia-ischemia at 70% (E22) and 79% (E25) caused stillbirths and multiple deficits in the postnatal survivors [2].
  • The polyproline-rich N-terminal (residues 1-60) domain of Bri3 was affinity-purified to homogeneity as a glutathione-S-transferase (GST) fusion protein [3].
  • A novel cDNA fragment was identified from a human fetal brain cDNA library by using the coding sequence of human BRI3 gene (Accession No. NM015379) as bait in a yeast two-hybrid screening [4].
 

Analytical, diagnostic and therapeutic context of ITM2C

  • In Northern blots, BRI3 cDNA hybridizes only one message of approximately 2.1 kilobases, which is predominantly present in the human brain [5].

References

  1. Neonatal enterovirus infections reported to the national enterovirus surveillance system in the United States, 1983-2003. Khetsuriani, N., Lamonte, A., Oberste, M.S., Pallansch, M. Pediatr. Infect. Dis. J. (2006) [Pubmed]
  2. A model of cerebral palsy from fetal hypoxia-ischemia. Derrick, M., Drobyshevsky, A., Ji, X., Tan, S. Stroke (2007) [Pubmed]
  3. Crystallization and preliminary X-ray analysis of the GST-fused human Bri3 N-terminal domain. Ye, Q., Singh, V.K., Blonde, J.D., Jia, Z. Acta Crystallograph. Sect. F Struct. Biol. Cryst. Commun. (2005) [Pubmed]
  4. Cloning, tissue expression pattern, and chromosome location of a novel human gene BRI3BP. Lin, L., Wu, Y., Li, C., Zhao, S. Biochem. Genet. (2001) [Pubmed]
  5. Sequence, genomic structure and tissue expression of Human BRI3, a member of the BRI gene family. Vidal, R., Calero, M., Révész, T., Plant, G., Ghiso, J., Frangione, B. Gene (2001) [Pubmed]
 
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