Gene Review:
PLEKHG4 - pleckstrin homology domain containing,...
Homo sapiens
Synonyms:
ARHGEF44, DKFZP434I216, PH domain-containing family G member 4, PRTPHN1, Pleckstrin homology domain-containing family G member 4, ...
- Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. Wieczorek, S., Arning, L., Alheite, I., Epplen, J.T. J. Hum. Genet. (2006)
- 16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study. Ouyang, Y., Sakoe, K., Shimazaki, H., Namekawa, M., Ogawa, T., Ando, Y., Kawakami, T., Kaneko, J., Hasegawa, Y., Yoshizawa, K., Amino, T., Ishikawa, K., Mizusawa, H., Nakano, I., Takiyama, Y. J. Neurol. Sci. (2006)
- An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Ishikawa, K., Toru, S., Tsunemi, T., Li, M., Kobayashi, K., Yokota, T., Amino, T., Owada, K., Fujigasaki, H., Sakamoto, M., Tomimitsu, H., Takashima, M., Kumagai, J., Noguchi, Y., Kawashima, Y., Ohkoshi, N., Ishida, G., Gomyoda, M., Yoshida, M., Hashizume, Y., Saito, Y., Murayama, S., Yamanouchi, H., Mizutani, T., Kondo, I., Toda, T., Mizusawa, H. Am. J. Hum. Genet. (2005)
- A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. Ohata, T., Yoshida, K., Sakai, H., Hamanoue, H., Mizuguchi, T., Shimizu, Y., Okano, T., Takada, F., Ishikawa, K., Mizusawa, H., Yoshiura, K., Fukushima, Y., Ikeda, S., Matsumoto, N. J. Hum. Genet. (2006)
