Species | Homo sapiens |
Alternate Name(s) | FMRP, FRAXA |
Epilepsy-Associated Disorder(s) | fragile X syndrome |
Description | fragile X mental retardation 1 |
Chromosome | X |
Locus | Xq27.3 |
Mouse Homolog | Fmr1 |
Protein Alignment | Homo sapiens:
Mus musculus: |
Reference(s) |
Chuang SC, Zhao W, Bauchwitz R, Yan Q, Bianchi R, Wong RK. Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model. J Neurosci. 2005 Aug 31;25(35):8048-55.
Moore SJ, Strain L, Cole GF, Miedzybrodzka Z, Kelly KF, Dean JC. Fragile X syndrome with FMR1 and FMR2 deletion. J Med Genet. 1999 Jul;36(7):565-6. Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. Hum Genet. 1997 Aug;100(2):256-61. |