FMR1

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.

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