fragile X mental retardation 1
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
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:hasRepeatExpansion |
CGG trinucleotide repeat
|
| gptkbp:HGNC_ID |
gptkb:HGNC:3775
|
| https://www.w3.org/2000/01/rdf-schema#label |
fragile X mental retardation 1
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:locatedOnChromosome |
X
Xq27.3 |
| gptkbp:mutationAssociatedWith |
loss of function
|
| gptkbp:OMIM |
309550
|
| gptkbp:orthologInDrosophila |
gptkb:dfmr1
|
| gptkbp:orthologInMouse |
gptkb:Fmr1
|
| gptkbp:symbol |
gptkb:FMR1
|
| gptkbp:UniProtID |
gptkb:Q06787
|
| gptkbp:bfsParent |
gptkb:FMR1
|
| gptkbp:bfsLayer |
7
|