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GAN  -  gigaxonin

Homo sapiens

Synonyms: GAN1, Gigaxonin, KLHL16, Kelch-like protein 16
 
 
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Disease relevance of GAN

  • Distinction of GAN tumors from other gastrointestinal stromal tumors is based on electron microscopic findings [1].
  • We conclude that a preoperative GAN-block does not offer significant advantages for postoperative pain relief in children undergoing tympanomastoid surgery [2].
  • The incidence of CMV viremia was 30.8%, 50.0%, and 91.7% in the GAN, VAL, and C groups, respectively ( P=0.004, GAN vs C; P=0.07, VAL vs C; P=NS, GAN vs VAL) [3].
 

High impact information on GAN

  • We found one frameshift, four nonsense and nine missense mutations in GAN of GAN patients [4].
  • Giant axonal neuropathy (GAN, MIM 256850), a severe, autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distension of the axons [4].
  • The results, together with the recent finding of an interaction between gigaxonin and MAP1B, a MT associated protein, suggests that gigaxonin plays an important role in the crosstalk between the IF and MT networks [5].
  • Analysis of aligned RNA sequences and high-resolution crystal structures has revealed a new RNA structural element, termed the UAA/GAN motif [6].
  • METHODS: A total of 83 patients were prospectively randomized to 3-month treatment with oral ganciclovir (3 g/day, n=36, GAN) or oral valacyclovir (8 g/day, n=35, VAL) [7].
 

Biological context of GAN

  • The GAN1 locus was localized by homozygosity mapping to chromosome 16 q24.1 in a 3 (4) cM interval flanked by the markers D16S3073 and D16S505 (D16S511) in three non-related Tunisian families, showing a genetic homogeneity in these families [8].
  • The differences in the course of the disease between Tunisian and non-Tunisian patients suggest a possible genetic heterogeneity, which is why the present linkage has been referred to as GAN1 [8].
 

Anatomical context of GAN

 

Associations of GAN with chemical compounds

  • Group sham block-block (SB-B) received a preemptive GAN-block with normal saline before surgical incision followed by a GAN-block with 0.25% bupivacaine with 1:200000 epinephrine 1 h before the completion of the procedure [2].
  • Over 50% of these proteins were reported for the first time as tyrosine phosphorylated, including gigaxonin, XIAP and CDK10 [13].
 

Analytical, diagnostic and therapeutic context of GAN

References

  1. Gastrointestinal autonomic nerve tumors. A clinicopathological, immunohistochemical, and ultrastructural study of 12 cases. Lauwers, G.Y., Erlandson, R.A., Casper, E.S., Brennan, M.F., Woodruff, J.M. Am. J. Surg. Pathol. (1993) [Pubmed]
  2. Does a preemptive block of the great auricular nerve improve postoperative analgesia in children undergoing tympanomastoid surgery? Suresh, S., Barcelona, S.L., Young, N.M., Heffner, C.L., Coté, C.J. Anesth. Analg. (2004) [Pubmed]
  3. A randomized prospective controlled trial of oral ganciclovir versus oral valacyclovir for prophylaxis of cytomegalovirus disease after renal transplantation. Reischig, T., Opatrny, K., Bouda, M., Treska, V., Jindra, P., Svecova, M. Transpl. Int. (2002) [Pubmed]
  4. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tüysüz, B., Landrieu, P., Hentati, F., Koenig, M. Nat. Genet. (2000) [Pubmed]
  5. Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. Bomont, P., Koenig, M. Hum. Mol. Genet. (2003) [Pubmed]
  6. The UAA/GAN internal loop motif: a new RNA structural element that forms a cross-strand AAA stack and long-range tertiary interactions. Lee, J.C., Gutell, R.R., Russell, R. J. Mol. Biol. (2006) [Pubmed]
  7. Valacyclovir for cytomegalovirus prophylaxis reduces the risk of acute renal allograft rejection. Reischig, T., Jindra, P., Mares, J., Cechura, M., Svecová, M., Hes, O., Opatrný, K., Treska, V. Transplantation (2005) [Pubmed]
  8. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.L., Ben Hamida, M., Koenig, M., Hentati, F. Neurogenetics (1997) [Pubmed]
  9. The neurotoxins 2,5-hexanedione and acrylamide promote aggregation of intermediate filaments in cultured fibroblasts. Durham, H.D., Pena, S.D., Carpenter, S. Muscle Nerve (1983) [Pubmed]
  10. Subclassification of gastrointestinal stromal tumors based on evaluation by electron microscopy and immunohistochemistry. Erlandson, R.A., Klimstra, D.S., Woodruff, J.M. Ultrastructural pathology. (1996) [Pubmed]
  11. Giant axonal neuropathy in two siblings: clinical histopathological findings. Hergüner, M.O., Zorludemir, S., Altunbasak, S. Clin. Neuropathol. (2005) [Pubmed]
  12. Gigaxonin is associated with the Golgi and dimerises via its BTB domain. Cullen, V.C., Brownlees, J., Banner, S., Anderton, B.H., Leigh, P.N., Shaw, C.E., Miller, C.C. Neuroreport (2004) [Pubmed]
  13. Proteomic analysis reveals novel molecules involved in insulin signaling pathway. Wang, Y., Li, R., Du, D., Zhang, C., Yuan, H., Zeng, R., Chen, Z. J. Proteome Res. (2006) [Pubmed]
  14. Malignant autonomic nerve tumor of the duodenum. Jain, K.A., Gerscovich, E.O., Goodnight, J.J. AJR. American journal of roentgenology. (1997) [Pubmed]
 
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