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

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Gene Review: 

TMEM47  -  transmembrane protein 47

Homo sapiens

Synonyms: BCMP1, Brain cell membrane protein 1, DKFZP761J17121, DKFZp564E153, TM4SF10, ...
 
 
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Disease relevance of TMEM47

  • 1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR) [1].
  • Two hundred fifty-two previously untreated evaluable patients with multiple myeloma were entered into a study testing a regimen of three intravenous alkylating agents, melphalan, cyclophosphamide, and carmustine (BCNU), given in combination (BCMP) against a regimen employing oral melphalan (MP) [2].
  • Two new aromatic bis-(2-chloroethyl)-amino derivatives (BCMP and BAD) which are linked to osteotropic bisphosphonates were investigated for their therapeutical efficacy in rat osteosarcoma [3].
 

High impact information on TMEM47

  • However, when the survival of the poor-risk (high tumor cell load) group of patients treated with BCMP was compared with the survival of the poor-risk (high tumor cell load) group of patients treated with MP, an improvement in survival attributable to BCMP therapy was seen (p = 0.049 and 0.02, respectively) [2].
  • DNA-single strand breaks were induced by BCMP but not by BAD in liver cells and CO631 cell line [3].
  • Two of these changes correspond to previously known SNPs, while three other were novel SNPs in the TM4SF10 gene [1].
  • BACKGROUND: The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain [1].
  • The comparison of penetration values for semen following swim-up suggests that this preparation may improve the correlation of BCMP with fertility [4].
 

Anatomical context of TMEM47

  • Following in vivo treatment BCMP was of higher genotoxic activity in liver cells than BAD [3].
 

Associations of TMEM47 with chemical compounds

  • Survival for the entire group of BCMP-treated patients was not significantly better than that for MP-treated patients (p = 0.62) [2].
 

Analytical, diagnostic and therapeutic context of TMEM47

  • The higher therapeutic efficacy of BAD together with its lower genotoxic properties makes this compound superior to BCMP as a candidate for applied chemotherapy in humans [3].
  • In the 62 men with sperm counts of greater than 20 million/ml and motility of greater than 60%, 55 (89%) had adequate BCMP while adequate penetration was found in only eight of 24 (33%) with both sperm count and motility below these values (p less than 0.001) [4].

References

  1. TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation. Christophe-Hobertus, C., Kooy, F., Gecz, J., Abramowicz, M.J., Holinski-Feder, E., Schwartz, C., Christophe, D. BMC Med. Genet. (2004) [Pubmed]
  2. Improved survival of increased-risk myeloma patients on combined triple-alkylating-agent therapy: a study of the CALGB. Harley, J.B., Pajak, T.F., McIntyre, O.R., Kochwa, S., Cooper, M.R., Coleman, M., Cuttner, J. Blood (1979) [Pubmed]
  3. In vivo and in vitro investigations on biological effects of aromatic bis-(2-chloroethyl)amino-bisphosphonic acids, new agents proposed for chemotherapy of bone tumors: cytostatic activity in rat osteosarcoma; toxicity and genotoxicity in liver and bone marrow; mutagenicity in S. typhimurium. Pool, B.L., Berger, M., Schlehofer, J.R., Wingen, F. Investigational new drugs. (1988) [Pubmed]
  4. Bovine cervical mucus penetration by human spermatozoa: lack of association with conception. Marshburn, P.B., Dodson, W.C., Haney, A.F. Arch. Androl. (1989) [Pubmed]
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