KEGG   VARIANT: 2332v1
Entry
2332v1                      Variant                                
Name
FMR1 mutation
Type
Loss of function
Gene
FMR1  fragile X messenger ribonucleoprotein 1 [KO:K15516]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 309550
Network
nt06541  Cytoskeleton in neurons
Disease
H00465  Fragile X syndrome
H00627  Premature ovarian failure
H01731  Fragile X tremor/ataxia syndrome
Reference
  Authors
Pfeiffer BE, Huber KM
  Title
The state of synapses in fragile X syndrome.
  Journal
Neuroscientist 15:549-67 (2009)
DOI:10.1177/1073858409333075
Reference
  Authors
Guo Y, Shen M, Dong Q, Mendez-Albelo NM, Huang SX, Sirois CL, Le J, Li M, Jarzembowski ED, Schoeller KA, Stockton ME, Horner VL, Sousa AMM, Gao Y, Levine JE, Wang D, Chang Q, Zhao X
  Title
Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.
  Journal
Nat Commun 14:3801 (2023)
DOI:10.1038/s41467-023-39337-0
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