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Gene Review

AGGF1  -  angiogenic factor with G patch and FHA...

Homo sapiens

Synonyms: Angiogenic factor VG5Q, Angiogenic factor with G patch and FHA domains 1, FLJ10283, G patch domain-containing protein 7, GPATC7, ...
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Disease relevance of AGGF1

  • Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS) [1].

High impact information on AGGF1


  1. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Tian, X.L., Kadaba, R., You, S.A., Liu, M., Timur, A.A., Yang, L., Chen, Q., Szafranski, P., Rao, S., Wu, L., Housman, D.E., DiCorleto, P.E., Driscoll, D.J., Borrow, J., Wang, Q. Nature (2004) [Pubmed]
  2. The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. Gutierrez, S., Magano, L., Delicado, A., Mori, M.A., de Torres, M.L., Fern??ndez, L., Palomares, M., Fern??ndez, E., Tarduchy, G.R., Molano, J., Gracia, R., Pajares, I.L., Lapunzina, P. Am. J. Med. Genet. A (2006) [Pubmed]
  3. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? Barker, K.T., Foulkes, W.D., Schwartz, C.E., Labadie, C., Monsell, F., Houlston, R.S., Harper, J. J. Med. Genet. (2006) [Pubmed]
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