| FMR1 — Fragile X Messenger Ribonucleoprotein 1 | |
|---|---|
| Symbol | FMR1 |
| Full Name | Fragile X Messenger Ribonucleoprotein 1 |
| Chromosome | Xq27.3 |
| NCBI Gene | 2332 |
| Ensembl | ENSG00000102081 |
| OMIM | 309550 |
| UniProt | Q06787 |
| Diseases | Fragile X Syndrome, FXTAS |
| Expression | Cerebral cortex, Hippocampus, Cerebellum, Brainstem, Testes |
| Key Mutations | |
| CGG repeat expansion (>200 = full mutation) Premutation: 55–200 CGG repeats Normal: 5–44 CGG repeats Intermediate: 45–54 CGG repeats |
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Fmr1 — Fragile X Messenger Ribonucleoprotein 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a gene located on chromosome Xq27.3 that plays a critical role in neurodegenerative disease. Mutations in FMR1 are associated with Fragile X Syndrome, FXTAS. The gene is catalogued as NCBI Gene ID 2332 and OMIM 309550.
The FMR1 gene encodes a protein that is expressed in multiple brain regions including Cerebral cortex, Hippocampus, Cerebellum, Brainstem, Testes. The normal function of this gene product is essential for neuronal health and survival.
Expression data is available from the Allen Human Brain Atlas.
FMR1 mutations are linked to the following neurodegenerative conditions:
The study of Fmr1 — Fragile X Messenger Ribonucleoprotein 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page auto-generated from NeuroWiki gene database. Last updated: 2026-02-26.