The fmr1 gene encodes an rna-binding protein involved in translational regulation and mrna transport, localized to the cytoplasm and neurites where it associates with microtubules. It is expressed in t...[+]

The fmr1 gene encodes an rna-binding protein involved in translational regulation and mrna transport, localized to the cytoplasm and neurites where it associates with microtubules. It is expressed in the brain, spinal cord, eye, and ear during development. The protein functions in neuronal development by regulating the translation of target mrnas and is implicated in synaptic function. [-]

             fragile X syndrome
             primary ovarian insufficiency
             primary ovarian insufficiency 1

          FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
          PREMATURE OVARIAN FAILURE 1; POF1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD