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Gene Review

GBE1  -  glucan (1,4-alpha-), branching enzyme 1

Homo sapiens

Synonyms: 1,4-alpha-glucan-branching enzyme, APBD, Brancher enzyme, GBE, GSD4, ...
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Disease relevance of GBE1


High impact information on GBE1


Chemical compound and disease context of GBE1


Biological context of GBE1


Anatomical context of GBE1


Associations of GBE1 with chemical compounds

  • The patient was heterozygous for a G-to-A substitution at codon 524 (R524Q), changing an encoded arginine (CGA) to glutamine (CAA), while the GBE1 gene on the other allele was not expressed [2].
  • We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A substitution at base 102 that results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon 1 [17].
  • The identification, among expressed genes, of putative sequences for glycogen synthase, glycogen branching enzyme, chitin synthase, and for the first enzyme in chitin synthesis (glutamine fructose-6-phosphate aminotransferase) is reported [18].
  • The transgenic starches were specifically modified with respect to amylopectin chain length and phosphorous content by suppression of the starch branching enzyme and overexpression of glycogen branching enzyme [19].

Analytical, diagnostic and therapeutic context of GBE1


  1. Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. Ward, T.L., Valberg, S.J., Lear, T.L., Guérin, G., Milenkovic, D., Swinburne, J.E., Binns, M.M., Raudsepp, T., Skow, L., Chowdhary, B.P., Mickelson, J.R. Cytogenet. Genome Res. (2003) [Pubmed]
  2. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Bruno, C., DiRocco, M., Lamba, L.D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O.P., DiMauro, S. Neuromuscul. Disord. (1999) [Pubmed]
  3. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Tay, S.K., Akman, H.O., Chung, W.K., Pike, M.G., Muntoni, F., Hays, A.P., Shanske, S., Valberg, S.J., Mickelson, J.R., Tanji, K., DiMauro, S. Neuromuscul. Disord. (2004) [Pubmed]
  4. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Ubogu, E.E., Hong, S.T., Akman, H.O., Dimauro, S., Katirji, B., Preston, D.C., Shapiro, B.E. Muscle Nerve (2005) [Pubmed]
  5. Glycogen branching enzyme in Lafora myoclonus epilepsy. Zimmerman, C.P., Gold, A.M. Biochemical medicine. (1982) [Pubmed]
  6. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. Bao, Y., Kishnani, P., Wu, J.Y., Chen, Y.T. J. Clin. Invest. (1996) [Pubmed]
  7. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ziemssen, F., Sindern, E., Schröder, J.M., Shin, Y.S., Zange, J., Kilimann, M.W., Malin, J.P., Vorgerd, M. Ann. Neurol. (2000) [Pubmed]
  8. Linkage of serum insulin concentrations to chromosome 3p in Mexican Americans. Mitchell, B.D., Cole, S.A., Hsueh, W.C., Comuzzie, A.G., Blangero, J., MacCluer, J.W., Hixson, J.E. Diabetes (2000) [Pubmed]
  9. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Bruno, C., van Diggelen, O.P., Cassandrini, D., Gimpelev, M., Giuffrè, B., Donati, M.A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. Neurology (2004) [Pubmed]
  10. A neonatal form of glycogen storage disease type IV. Nambu, M., Kawabe, K., Fukuda, T., Okuno, T.B., Ohta, S., Nonaka, I., Sugie, H., Nishino, I. Neurology (2003) [Pubmed]
  11. Polyglucosan body disease simulating amyotrophic lateral sclerosis. McDonald, T.D., Faust, P.L., Bruno, C., DiMauro, S., Goldman, J.E. Neurology (1993) [Pubmed]
  12. Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. Brown, D.H., Brown, B.I. Biochem. Biophys. Res. Commun. (1983) [Pubmed]
  13. Prenatal diagnosis of glycogen storage disease type IV. Akman, H.O., Karadimas, C., Gyftodimou, Y., Grigoriadou, M., Kokotas, H., Konstantinidou, A., Anninos, H., Patsouris, E., Thaker, H.M., Kaplan, J.B., Besharat, I., Hatzikonstantinou, K., Fotopoulos, S., Dimauro, S., Petersen, M.B. Prenat. Diagn. (2006) [Pubmed]
  14. Juvenile polysaccharidosis with cardioskeletal myopathy. Greene, G.M., Weldon, D.C., Ferrans, V.J., Cheatham, J.P., McComb, R.D., Brown, B.I., Gumbiner, C.H., Vanderhoof, J.A., Itkin, P.G., McManus, B.M. Arch. Pathol. Lab. Med. (1987) [Pubmed]
  15. A mild juvenile variant of type IV glycogenosis. Reusche, E., Aksu, F., Goebel, H.H., Shin, Y.S., Yokota, T., Reichmann, H. Brain Dev. (1992) [Pubmed]
  16. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Das, B.B., Narkewicz, M.R., Sokol, R.J., Chen, Y.T., Bali, D., Li, S.C., Matthews, M.R., Mierau, G.W., Ivy, D.D. Pediatric transplantation. (2005) [Pubmed]
  17. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Ward, T.L., Valberg, S.J., Adelson, D.L., Abbey, C.A., Binns, M.M., Mickelson, J.R. Mamm. Genome (2004) [Pubmed]
  18. Carbon export from arbuscular mycorrhizal roots involves the translocation of carbohydrate as well as lipid. Bago, B., Pfeffer, P.E., Abubaker, J., Jun, J., Allen, J.W., Brouillette, J., Douds, D.D., Lammers, P.J., Shachar-Hill, Y. Plant Physiol. (2003) [Pubmed]
  19. Sensory and rheological properties of transgenically and chemically modified starch ingredients as evaluated in a food product model. Ahmt, T., Wischmann, B., Blennow, A., Madsen, F., Bandsholm, O., Thomsen, J. Die Nahrung. (2004) [Pubmed]
  20. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. Janecke, A.R., Dertinger, S., Ketelsen, U.P., Bereuter, L., Simma, B., Müller, T., Vogel, W., Offner, F.A. J. Pediatr. (2004) [Pubmed]
  21. Nickel-induced 1,4-alpha-glucan branching enzyme 1 up-regulation via the hypoxic signaling pathway. Zhao, J., Chen, H., Davidson, T., Kluz, T., Zhang, Q., Costa, M. Toxicol. Appl. Pharmacol. (2004) [Pubmed]
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