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Gene Review

MCCC1  -  methylcrotonoyl-CoA carboxylase 1 (alpha)

Homo sapiens

Synonyms: 3-methylcrotonyl-CoA carboxylase 1, 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha, MCC-B, MCCA, ...
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Disease relevance of MCCC1


High impact information on MCCC1


Chemical compound and disease context of MCCC1


Biological context of MCCC1


Anatomical context of MCCC1


Associations of MCCC1 with chemical compounds


Other interactions of MCCC1


Analytical, diagnostic and therapeutic context of MCCC1


  1. Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. Desviat, L.R., Pérez-Cerdá, C., Pérez, B., Esparza-Gordillo, J., Rodríguez-Pombo, P., Peñalva, M.A., Rodríguez De Córdoba, S., Ugarte, M. Mol. Genet. Metab. (2003) [Pubmed]
  2. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Packman, S., Caswell, N., Gonzalez-Rios, M.C., Kadlecek, T., Cann, H., Rassin, D., McKay, C. Am. J. Hum. Genet. (1984) [Pubmed]
  3. Quantification of proliferative activity in colorectal adenomas by mitotic counts: relationship to degree of dysplasia and histological type. Meijer, G.A., Baak, J.P. J. Clin. Pathol. (1995) [Pubmed]
  4. Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. Wiesmann, U.N., Suormala, T., Pfenninger, J., Baumgartner, E.R. Eur. J. Pediatr. (1998) [Pubmed]
  5. Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC). Chu, C.H., Cheng, D. Protein Expr. Purif. (2007) [Pubmed]
  6. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. Baumgartner, M.R., Almashanu, S., Suormala, T., Obie, C., Cole, R.N., Packman, S., Baumgartner, E.R., Valle, D. J. Clin. Invest. (2001) [Pubmed]
  7. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. Narisawa, K., Gibson, K.M., Sweetman, L., Nyhan, W.L., Duran, M., Wadman, S.K. J. Clin. Invest. (1986) [Pubmed]
  8. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Baumgartner, M.R., Dantas, M.F., Suormala, T., Almashanu, S., Giunta, C., Friebel, D., Gebhardt, B., Fowler, B., Hoffmann, G.F., Baumgartner, E.R., Valle, D. Am. J. Hum. Genet. (2004) [Pubmed]
  9. Induction of neutrophilic differentiation of human promyelocytic leukemic cells by branched-chain carboxylic acid anticonvulsant drugs. Fischkoff, S.A., Walter, E. Journal of biological response modifiers. (1984) [Pubmed]
  10. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Holzinger, A., Röschinger, W., Lagler, F., Mayerhofer, P.U., Lichtner, P., Kattenfeld, T., Thuy, L.P., Nyhan, W.L., Koch, H.G., Muntau, A.C., Roscher, A.A. Hum. Mol. Genet. (2001) [Pubmed]
  11. Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. Stadler, S.C., Polanetz, R., Meier, S., Mayerhofer, P.U., Herrmann, J.M., Anslinger, K., Roscher, A.A., Röschinger, W., Holzinger, A. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  12. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. Koeberl, D.D., Millington, D.S., Smith, W.E., Weavil, S.D., Muenzer, J., McCandless, S.E., Kishnani, P.S., McDonald, M.T., Chaing, S., Boney, A., Moore, E., Frazier, D.M. J. Inherit. Metab. Dis. (2003) [Pubmed]
  13. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Baumgartner, E.R., Suormala, T.M., Wick, H., Probst, A., Blauenstein, U., Bachmann, C., Vest, M. Pediatr. Res. (1989) [Pubmed]
  14. Carotid artery intima-media thickness could predict the presence of coronary artery lesions. Kotsis, V.T., Pitiriga, V.C.h., Stabouli, S.V., Papamichael, C.M., Toumanidis, S.T., Rokas, S.G., Zakopoulos, N.A. Am. J. Hypertens. (2005) [Pubmed]
  15. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Gallardo, M.E., Desviat, L.R., Rodríguez, J.M., Esparza-Gordillo, J., Pérez-Cerdá, C., Pérez, B., Rodríguez-Pombo, P., Criado, O., Sanz, R., Morton, D.H., Gibson, K.M., Le, T.P., Ribes, A., de Córdoba, S.R., Ugarte, M., Peñalva, M.A. Am. J. Hum. Genet. (2001) [Pubmed]
  16. Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. Rodríguez, J.M., Ruíz-Sala, P., Ugarte, M., Peñalva, M.A. J. Biol. Chem. (2004) [Pubmed]
  17. Fungal metabolic model for type I 3-methylglutaconic aciduria. Rodríguez, J.M., Ruíz-Sala, P., Ugarte, M., Peñalva, M.A. J. Biol. Chem. (2004) [Pubmed]
  18. Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. Sovik, O., Sweetman, L., Gibson, K.M., Nyhan, W.L. Am. J. Hum. Genet. (1984) [Pubmed]
  19. Developmental patterns of free and protein-bound biotin during maturation and germination of seeds of Pisum sativum: characterization of a novel seed-specific biotinylated protein. Duval, M., Job, C., Alban, C., Douce, R., Job, D. Biochem. J. (1994) [Pubmed]
  20. Biotin supplementation increases expression of genes encoding interferon-gamma, interleukin-1beta, and 3-methylcrotonyl-CoA carboxylase, and decreases expression of the gene encoding interleukin-4 in human peripheral blood mononuclear cells. Wiedmann, S., Eudy, J.D., Zempleni, J. J. Nutr. (2003) [Pubmed]
  21. 3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. Visser, G., Suormala, T., Smit, G.P., Reijngoud, D.J., Bink-Boelkens, M.T., Niezen-Koning, K.E., Baumgartner, E.R. Eur. J. Pediatr. (2000) [Pubmed]
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