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Gene Review

OSTM1  -  osteopetrosis associated transmembrane...

Homo sapiens

Synonyms: Chloride channel 7 beta subunit, GIPN, GL, HSPC019, OPTB5, ...
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Disease relevance of OSTM1

  • Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis [1].
  • In summary, we describe the identification of a novel mutation in the coding sequence of the human grey-lethal gene, which is the second OSTM1 mutation found in human ARO, confirming the involvement of this gene in the pathogenesis of this severe bone disease [1].
  • At 4 months the overall mortality among those with definite and possible myocardial infarction receiving GL enzyme (6 out of 83 patients, 7.2%) was lower than that in those receiving placebo (11 out of 79, 14%); this difference was not significant [2].
  • Of the 71 patients with infarction, 35 received GL enzyme and 36 placebo within 6 h of the onset of chest pain [3].

High impact information on OSTM1

  • GIPN mRNA is ubiquitously expressed, and GIPN is found on the plasma membrane of transfected HEK293 cells [4].
  • GIPN (GAIP interacting protein N terminus) is a 38-kDa protein with an N-terminal leucine-rich region, a central RING finger-like domain, and a putative C-terminal transmembrane domain [4].
  • The expression of clcn7 and ostm1 in osteoclasts is coregulated by microphthalmia transcription factor [5].
  • We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described [6].
  • Our analysis suggests that OSTM1 defines a new subset of patients with severe central nervous system involvement [6].

Anatomical context of OSTM1

  • Astrocytes comprising the new GL were positive for anti-IL-1beta [7].
  • This species-specific difference in R3E mRNA expression has similarities to the high level of expression of GL mRNA in human but not rodent skeletal muscle [8].

Associations of OSTM1 with chemical compounds

  • Three kinds of boreal zone fish were investigated for gastrointestinal glycyl-L-leucine (GL) dipeptide cleaving activity as a function of feeding stage and seasonal changes [9].

Analytical, diagnostic and therapeutic context of OSTM1


  1. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Ramírez, A., Faupel, J., Goebel, I., Stiller, A., Beyer, S., Stöckle, C., Hasan, C., Bode, U., Kornak, U., Kubisch, C. Hum. Mutat. (2004) [Pubmed]
  2. Effect of a highly purified hyaluronidase preparation (GL enzyme) on electrocardiographic changes in acute myocardial infarction. Henderson, A., Campbell, R.W., Julian, D.G. Lancet (1982) [Pubmed]
  3. Effects of early administration of a highly purified hyaluronidase preparation (GL enzyme) on myocardial infarct size. Saltissi, S., Robinson, P.S., Coltart, D.J., Webb-Peploe, M.M., Croft, D.N. Lancet (1982) [Pubmed]
  4. Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP. Fischer, T., De Vries, L., Meerloo, T., Farquhar, M.G. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  5. The expression of clcn7 and ostm1 in osteoclasts is coregulated by microphthalmia transcription factor. Meadows, N.A., Sharma, S.M., Faulkner, G.J., Ostrowski, M.C., Hume, D.A., Cassady, A.I. J. Biol. Chem. (2007) [Pubmed]
  6. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. Pangrazio, A., Poliani, P.L., Megarbane, A., Lefranc, G., Lanino, E., Di Rocco, M., Rucci, F., Lucchini, F., Ravanini, M., Facchetti, F., Abinun, M., Vezzoni, P., Villa, A., Frattini, A. J. Bone Miner. Res. (2006) [Pubmed]
  7. Regulation by interleukin-1beta of formation of a line of delimiting astrocytes following prenatal trauma to the brain of the mouse. Scripter, J.L., Ko, J., Kow, K., Arimura, A., Ide, C.F. Exp. Neurol. (1997) [Pubmed]
  8. A novel glycogen-targeting subunit of protein phosphatase 1 that is regulated by insulin and shows differential tissue distribution in humans and rodents. Munro, S., Ceulemans, H., Bollen, M., Diplexcito, J., Cohen, P.T. FEBS J. (2005) [Pubmed]
  9. Temperature dependent characteristics of intestinal glycyl-L-leucine dipeptidase in boreal zone fish. Gelman, A., Kuz'mina, V., Drabkin, V., Glatman, L. Comp. Biochem. Physiol. B, Biochem. Mol. Biol. (2003) [Pubmed]
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