Fmr1

URI: https://gptkb.org/entity/Fmr1
GPTKB entity
Statements (28)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:fragile_X-associated_primary_ovarian_insufficiency
gptkb:fragile_X-associated_tremor/ataxia_syndrome
gptkb:fragile_X_syndrome
gptkbp:discoveredBy gptkb:Stephen_T._Warren
gptkbp:encodes gptkb:FMRP
gptkbp:Entrez_Gene_ID 2332
gptkbp:expressedIn gptkb:testis
brain
gptkbp:function RNA binding
regulation of synaptic plasticity
gptkbp:HGNC_ID gptkb:HGNC:3775
gptkbp:locatedOnChromosome X
gptkbp:locusType Xq27.3
gptkbp:mutationAssociatedWith gptkb:intellectual_disability
gptkb:autism_spectrum_disorder
CGG trinucleotide repeat expansion
gptkbp:OMIM 309550
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn gptkb:Mus_musculus
gptkbp:product gptkb:fragile_X_mental_retardation_protein
gptkbp:proteinFamily fragile X gene family
gptkbp:symbol gptkb:FMR1
gptkbp:UniProtID gptkb:Q06787
gptkbp:bfsParent gptkb:FMR1
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Fmr1