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ABCB7  -  ATP-binding cassette, sub-family B...

Homo sapiens

Synonyms: ABC transporter 7 protein, ABC7, ASAT, ATP-binding cassette sub-family B member 7, mitochondrial, ATP-binding cassette transporter 7, ...
 
 
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Disease relevance of ABCB7

 

Psychiatry related information on ABCB7

  • CDT values were significantly positively correlated with daily alcohol consumption but not with GT, ASAT, ALAT or MCV [6].
 

High impact information on ABCB7

  • Altogether, these studies demonstrate the essential nature of Abcb7 in mammals and further substantiate a central role for mitochondria in the biogenesis of cytosolic Fe-S proteins [7].
  • Furthermore, using X-chromosome inactivation assays and tissue-specific deletions, Abcb7 was found to be essential for the development and function of numerous other cell types and tissues [7].
  • The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis [7].
  • We found that Abcb7 was essential in extra-embryonic tissues early in gestation and that the mutant allele exhibits an X-linked parent-of-origin lethality effect [7].
  • Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase [8].
 

Chemical compound and disease context of ABCB7

  • Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation [9].
  • We describe a case of liver cirrhosis lacking the expected increase in serum thyroxin (T4)-binding globulin (TBG) despite abrupt, severe increases in aspartate and alanine aminotransferases (ASAT and ALAT) in serum [10].
  • Estimated by peak CK-MB and ASAT, infarction size was significantly reduced in the ticlopidine group [11].
  • Clinical condition, body weight, clinical chemistry parameters (ALAT, ASAT, creatinin and urea) and target organs (as identified by weight and pathology - kidney, liver, adrenals, forestomach and brain) were affected by age and dose, but often more severely in old than in young rats [12].
  • Sixty-one patients with acute necrotizing pancreatitis were studied for age, sex, ASAT, ALAT, alkaline phosphatase, bilirubin and amylase 48 hours after admission, these factors having recently been found to be significant in predicting this gallstone-associated disease [13].
 

Biological context of ABCB7

 

Anatomical context of ABCB7

  • We examined the role of ABC7 in the biosynthesis of heme in erythroid cells where hemoglobin is a major product of iron-containing compounds [8].
  • Atm1p, a mitochondrial half-type ATP-binding cassette (ABC) protein in Saccharomyces cerevisiae, transports a precursor of the iron-sulfur (Fe/S) cluster from mitochondria to the cytosol [15].
  • The N-terminus of hABC7 contains the information for targeting and import into the organelles [16].
  • Possible direct effects of angiostatin on hepatocytes were studied by assessment of liver enzymes (ASAT, ALAT, bilirubin, lactate dehydrogenase), MTT assay (cytotoxicity), aminophenol production (metabolic function), and TUNEL (apoptosis) [17].
  • OBJECTIVE: The objective was to investigate the influence of age and sex on total (TAAT), visceral (VAT), and abdominal subcutaneous (ASAT) adipose tissue for a given WC [18].
 

Associations of ABCB7 with chemical compounds

  • The human protein ABC7 belongs to the adenosine triphosphate-binding cassette transporter superfamily, and its yeast orthologue, Atm1p, plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins [3].
  • The mutation was a G-to-A transition at nucleotide 1305 of the full-length cDNA, resulting in a charge inversion caused by the substitution of lysine for glutamate at residue 433 C-terminal to the putative sixth transmembrane domain of ABC7 [3].
  • Slight increases in aspartate (ASAT; mean 5.6 U/L at the higher dose) and alanine (ALAT; mean 5.1 U/L at the higher dose) aminotransferases were not clinically significant [19].
  • CONCLUSIONS: The primary observation is that VAT is associated with plasma insulin and glucose variables independent of whole-body SAT, ASAT, and SM in obese women [20].
  • Those with aspartate aminotransferase greater than 2000 U/L were classified as having severe preservation injury while those with ASAT less than 600 U/L were considered to have had minimal preservation injury [21].
 

Other interactions of ABCB7

  • The absence of mutations in the ALAS2 gene and the predominance of zinc over free protoporphyrin led to a search using a combination of DNA and cDNA analysis for the presence of mutations in the ABC7 gene [14].
  • These data demonstrate that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family [3].
  • X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L [14].
 

Analytical, diagnostic and therapeutic context of ABCB7

References

  1. Iron trafficking in the mitochondrion: novel pathways revealed by disease. Napier, I., Ponka, P., Richardson, D.R. Blood (2005) [Pubmed]
  2. Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. Sun, G., Gargus, J.J., Ta, D.T., Vickery, L.E. J. Hum. Genet. (2003) [Pubmed]
  3. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D.F. Blood (2000) [Pubmed]
  4. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Allikmets, R., Raskind, W.H., Hutchinson, A., Schueck, N.D., Dean, M., Koeller, D.M. Hum. Mol. Genet. (1999) [Pubmed]
  5. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Savary, S., Allikmets, R., Denizot, F., Luciani, M.F., Mattei, M.G., Dean, M., Chimini, G. Genomics (1997) [Pubmed]
  6. Carbohydrate-deficient transferrin (CDT) in serum in women with early alcohol addiction. Stibler, H., Dahlgren, L., Borg, S. Alcohol (1988) [Pubmed]
  7. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Pondarré, C., Antiochos, B.B., Campagna, D.R., Clarke, S.L., Greer, E.L., Deck, K.M., McDonald, A., Han, A.P., Medlock, A., Kutok, J.L., Anderson, S.A., Eisenstein, R.S., Fleming, M.D. Hum. Mol. Genet. (2006) [Pubmed]
  8. Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. Taketani, S., Kakimoto, K., Ueta, H., Masaki, R., Furukawa, T. Blood (2003) [Pubmed]
  9. Mitochondria in hematopoiesis and hematological diseases. Fontenay, M., Cathelin, S., Amiot, M., Gyan, E., Solary, E. Oncogene (2006) [Pubmed]
  10. Are increases in thyroxin-binding globulin in patients with acute hepatitis ascribable to synthesis by regenerating hepatocytes? Shigemasa, C., Tanaka, T., Mitani, Y., Ueta, Y., Taniguchi, S., Urabe, K., Adachi, T., Yoshida, A., Abe, K., Mashiba, H. Clin. Chem. (1988) [Pubmed]
  11. The effect of ticlopidine on platelet functions in acute myocardial infarction. A double blind controlled trial. Knudsen, J.B., Kjøller, E., Skagen, K., Gormsen, J. Thromb. Haemost. (1985) [Pubmed]
  12. Age-related differences in the toxicity of ochratoxin A in female rats. Dortant, P.M., Peters-Volleberg, G.W., Van Loveren, H., Marquardt, R.R., Speijers, G.J. Food Chem. Toxicol. (2001) [Pubmed]
  13. Clinicobiochemical factors in predicting gallstones in necrotizing pancreatitis. Nordback, I., Auvinen, O., Autio, V. Surgery, gynecology & obstetrics. (1985) [Pubmed]
  14. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Maguire, A., Hellier, K., Hammans, S., May, A. Br. J. Haematol. (2001) [Pubmed]
  15. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. Mitsuhashi, N., Miki, T., Senbongi, H., Yokoi, N., Yano, H., Miyazaki, M., Nakajima, N., Iwanaga, T., Yokoyama, Y., Shibata, T., Seino, S. J. Biol. Chem. (2000) [Pubmed]
  16. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. Csere, P., Lill, R., Kispal, G. FEBS Lett. (1998) [Pubmed]
  17. Liver regeneration is an angiogenesis- associated phenomenon. Drixler, T.A., Vogten, M.J., Ritchie, E.D., van Vroonhoven, T.J., Gebbink, M.F., Voest, E.E., Borel Rinkes, I.H. Ann. Surg. (2002) [Pubmed]
  18. Waist circumference and abdominal adipose tissue distribution: influence of age and sex. Kuk, J.L., Lee, S., Heymsfield, S.B., Ross, R. Am. J. Clin. Nutr. (2005) [Pubmed]
  19. Efficacy and safety of fluvastatin in patients with non-insulin-dependent diabetes mellitus and hyperlipidemia. Knopp, R.H., Frohlich, J., Jokubaitis, L.A., Dawson, K., Broyles, F.E., Gomez-Coronado, D. Am. J. Med. (1994) [Pubmed]
  20. Separate associations between visceral and subcutaneous adipose tissue distribution, insulin and glucose levels in obese women. Ross, R., Fortier, L., Hudson, R. Diabetes Care (1996) [Pubmed]
  21. The influence of preservation injury on rejection in the hepatic transplant recipient. Howard, T.K., Klintmalm, G.B., Cofer, J.B., Husberg, B.S., Goldstein, R.M., Gonwa, T.A. Transplantation (1990) [Pubmed]
  22. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E. J. Hum. Genet. (1998) [Pubmed]
  23. Effects of 10 minutes of ischemic preconditioning of the cadaveric liver on the graft's preservation and function: the ying and the yang. Azoulay, D., Del Gaudio, M., Andreani, P., Ichai, P., Sebag, M., Adam, R., Scatton, O., Min, B.Y., Delvard, V., Lemoine, A., Bismuth, H., Castaing, D. Ann. Surg. (2005) [Pubmed]
  24. The tissue hydration state in UW-preserved human donor livers. A clinical study of the relation between proton magnetic resonance relaxation times, donor condition, preservation procedure, and early graft function. Wolf, R.F., den Butter, G., Kamman, R.L., Deketh, H.P., Sluiter, W.J., Slooff, M.J. Transplantation (1994) [Pubmed]
  25. Synergistic antitumor effects of histamine plus melphalan in isolated hepatic perfusion for liver metastases. Brunstein, F., Eggermont, A.M., de Wiel-Ambagtsheer, G.A., van Tiel, S.T., Rens, J., Hagen, T.L. Ann. Surg. Oncol. (2007) [Pubmed]
  26. Dose-dependent hormonal effects of toremifene in postmenopausal breast cancer patients. Ellmén, J., Werner, D., Hakulinen, P., Keiling, R., Fargeot, P., Falkson, G., Bezwoda, W.R. Cancer Chemother. Pharmacol. (2000) [Pubmed]
 
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