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The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质结合的RNA,并与多聚核糖体相关联。所编码的蛋白质可在mRNA的贩卖从细胞核至细胞质的参与。 5‘UTR一个三核苷酸重复序列(CGG)通常在6-53份发现,而是扩大到55-230重复是脆性X综合征的原因。的三核苷酸重复的扩张也可能会导致过早的卵巢功能衰竭(POF1)的一种形式。编码不同蛋白同种型和存在于不同的细胞位置的多个可变剪接转录物变体已被用于这个基因说明。 [由RefSeq的,2010年5月提供]
FMR1基因(以及对应的蛋白质)的细胞分布位置:
FMR1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Fragile X Syndrome | 0.747499467 | 557 | 2 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
FRAGILE X TREMOR/ATAXIA SYNDROME | 0.360292949 | 131 | 0 | BeFree_CLINVAR_CTD_human_GAD_MGD |
Autistic Disorder | 0.21695888 | 36 | 0 | BeFree_CTD_human_GAD_LHGDN_MGD |
Ovarian Failure, Premature | 0.187313836 | 77 | 0 | BeFree_CTD_human_GAD_LHGDN |
Intellectual Disability | 0.14340359 | 33 | 0 | BeFree_CTD_human_LHGDN |
FRAXA Syndrome | 0.122442977 | 9 | 0 | BeFree_ORPHANET |
Congenital Abnormality | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Cognition Disorders | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Primary Ovarian Insufficiency, Fragile X-Associated | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Gonadal Dysgenesis | 0.12 | 1 | 0 | CTD_human |
Facies | 0.12 | 1 | 0 | CTD_human |
Craniofacial Abnormalities | 0.12 | 2 | 0 | CTD_human |
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | 0.12 | 0 | 0 | ORPHANET |
Mental Retardation | 0.042659981 | 133 | 1 | BeFree_GAD |
Tremor | 0.024165715 | 21 | 0 | BeFree_GAD_LHGDN |
Ataxia | 0.023698776 | 24 | 0 | BeFree_GAD_LHGDN |
Parkinson Disease | 0.021279544 | 9 | 0 | BeFree_GAD_LHGDN |
Premature Menopause | 0.012681823 | 38 | 0 | BeFree_GAD |
Neurodegenerative Disorders | 0.010857675 | 40 | 0 | BeFree |
Parkinsonian Disorders | 0.010606096 | 19 | 0 | BeFree_LHGDN |
Ataxia, Spinocerebellar | 0.008458305 | 7 | 0 | BeFree_GAD |
Female infertility | 0.007101096 | 3 | 0 | GAD |
Disorder of endocrine ovary | 0.006905599 | 9 | 0 | BeFree_GAD |
Dementia | 0.00680591 | 7 | 0 | BeFree_LHGDN |
Impaired cognition | 0.004885954 | 18 | 0 | BeFree |
Movement Disorders | 0.004267125 | 8 | 0 | BeFree_GAD |
Turner Syndrome | 0.004071628 | 15 | 0 | BeFree |
Mental disorders | 0.003724241 | 6 | 0 | BeFree_GAD |
Cerebellar Diseases | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Atrial Septal Defects | 0.003257302 | 12 | 2 | BeFree |
Mental handicap | 0.003257302 | 12 | 0 | BeFree |
Autism Spectrum Disorders | 0.002985861 | 11 | 0 | BeFree |
Essential Tremor | 0.002909916 | 2 | 0 | BeFree_GAD |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Abnormal mental state | 0.002714419 | 10 | 0 | BeFree |
Ovarian failure | 0.002714419 | 10 | 0 | BeFree |
Mental Retardation, X-Linked | 0.002714419 | 10 | 0 | BeFree |
Anxiety Disorders | 0.002442977 | 9 | 0 | BeFree |
Epilepsy | 0.002442977 | 9 | 0 | BeFree |
Action Tremor | 0.002442977 | 9 | 0 | BeFree |
Hypergonadotropic Ovarian Failure, X-Linked | 0.002442977 | 9 | 0 | BeFree |
Diminished ovarian reserve | 0.002442977 | 9 | 0 | BeFree |
Ataxia Telangiectasia | 0.002367032 | 1 | 0 | GAD |
Huntington Disease | 0.002367032 | 1 | 0 | GAD |
Ovarian Diseases | 0.002367032 | 1 | 0 | GAD |
Spinocerebellar Degeneration | 0.002367032 | 1 | 0 | GAD |
Genomic Instability | 0.002367032 | 1 | 0 | GAD |
Seizures | 0.001900093 | 7 | 0 | BeFree |
Developmental delay (disorder) | 0.001900093 | 7 | 0 | BeFree |
Ovarian Insufficiency | 0.001900093 | 7 | 0 | BeFree |
Developmental Disabilities | 0.001628651 | 6 | 0 | BeFree |
Exanthema | 0.001628651 | 6 | 0 | BeFree |
Mild Mental Retardation | 0.001628651 | 6 | 0 | BeFree |
Learning Disabilities | 0.001628651 | 6 | 0 | BeFree |
Spots on skin | 0.001628651 | 6 | 0 | BeFree |
Macroorchidism | 0.001628651 | 6 | 0 | BeFree |
Presenile dementia | 0.001357209 | 5 | 0 | BeFree |
nervous system disorder | 0.001357209 | 5 | 0 | BeFree |
Schizophrenia | 0.001357209 | 5 | 0 | BeFree |
Neurologic Symptoms | 0.001357209 | 5 | 0 | BeFree |
Neurodevelopmental Disorders | 0.001357209 | 5 | 0 | BeFree |
Autoimmune Diseases | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Mental Depression | 0.001085767 | 4 | 0 | BeFree |
Depressive disorder | 0.001085767 | 4 | 0 | BeFree |
HIV Infections | 0.001085767 | 4 | 0 | BeFree |
Prader-Willi Syndrome | 0.001085767 | 4 | 0 | BeFree |
Memory impairment | 0.001085767 | 4 | 0 | BeFree |
Fragile X chromosome | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Attention deficit hyperactivity disorder | 0.001085767 | 4 | 0 | BeFree |
Fibromyalgia | 0.000814326 | 3 | 0 | BeFree |
Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
Shy-Drager Syndrome | 0.000814326 | 3 | 0 | BeFree |
Unipolar Depression | 0.000814326 | 3 | 0 | BeFree |
Psychological symptom | 0.000814326 | 3 | 0 | BeFree |
Multiple System Atrophy | 0.000814326 | 3 | 0 | BeFree |
Congenital Myotonic Dystrophy | 0.000814326 | 3 | 0 | BeFree |
Social fear | 0.000814326 | 3 | 0 | BeFree |
Autistic behavior | 0.000814326 | 3 | 0 | BeFree |
Major Depressive Disorder | 0.000814326 | 3 | 0 | BeFree |
Executive dysfunction | 0.000814326 | 3 | 0 | BeFree |
Learning disabled | 0.000814326 | 3 | 0 | BeFree |
Amenorrhea | 0.000542884 | 2 | 0 | BeFree |
Cerebellar Ataxia | 0.000542884 | 2 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Metabolic Diseases | 0.000542884 | 2 | 0 | BeFree |
Moderate mental retardation (I.Q. 35-49) | 0.000542884 | 2 | 0 | BeFree |
Mucopolysaccharidosis II | 0.000542884 | 2 | 0 | BeFree |
Cerebral atrophy | 0.000542884 | 2 | 0 | BeFree |
brain dysfunction | 0.000542884 | 2 | 0 | BeFree |
Congenital anomaly of face | 0.000542884 | 2 | 0 | BeFree |
Spastic syndrome | 0.000542884 | 2 | 0 | BeFree |
Motor symptoms | 0.000542884 | 2 | 0 | BeFree |
audiogenic seizure | 0.000542884 | 2 | 0 | BeFree |
FRAXE Syndrome | 0.000542884 | 2 | 0 | BeFree |
Dentatorubral-Pallidoluysian Atrophy | 0.000542884 | 2 | 0 | BeFree |
Gait Ataxia | 0.000542884 | 2 | 0 | BeFree |
Dysmorphism | 0.000542884 | 2 | 0 | BeFree |
COGNITIVE FUNCTION 1, SOCIAL | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Ataxias, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Avoidant Personality Disorder | 0.000271442 | 1 | 0 | BeFree |
Behavior Disorders | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Friedreich Ataxia | 0.000271442 | 1 | 0 | BeFree |
Hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Ichthyoses | 0.000271442 | 1 | 0 | BeFree |
Congenital ichthyosis | 0.000271442 | 1 | 0 | BeFree |
Klinefelter Syndrome | 0.000271442 | 1 | 0 | BeFree |
Language Delay | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 1 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Machado-Joseph Disease | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pain | 0.000271442 | 1 | 0 | BeFree |
Phobia, Social | 0.000271442 | 1 | 0 | BeFree |
Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
Sleep disturbances | 0.000271442 | 1 | 0 | BeFree |
Stress, Psychological | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Thyroid Diseases | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Ichthyosis, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Migraine Disorders | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Secondary physiologic amenorrhea | 0.000271442 | 1 | 0 | BeFree |
Psychiatric symptom | 0.000271442 | 1 | 0 | BeFree |
Bradykinesia | 0.000271442 | 1 | 0 | BeFree |
Pick Disease of the Brain | 0.000271442 | 1 | 0 | BeFree |
Frontotemporal dementia | 0.000271442 | 1 | 0 | BeFree |
Mixed anxiety and depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Deficiency of testosterone biosynthesis | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Cerebellar Ataxia, Late Onset | 0.000271442 | 1 | 0 | BeFree |
Inattention | 0.000271442 | 1 | 0 | BeFree |
Klinefelter's syndrome - male with more than two X chromosomes | 0.000271442 | 1 | 0 | BeFree |
Developmental symptoms | 0.000271442 | 1 | 0 | BeFree |
Dyslexia | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Mental impairment | 0.000271442 | 1 | 0 | BeFree |
Psychoticism | 0.000271442 | 1 | 0 | BeFree |
Dyssomnias | 0.000271442 | 1 | 0 | BeFree |
Spinocerebellar Ataxia Type 1 | 0.000271442 | 1 | 0 | BeFree |
Smith-Magenis syndrome | 0.000271442 | 1 | 0 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Sleep Disorders | 0.000271442 | 1 | 0 | BeFree |
Becker Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
Takotsubo Cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
Opitz-G syndrome, type 2 | 0.000271442 | 1 | 0 | BeFree |
Bulbo-Spinal Atrophy, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Placental Steroid Sulfatase Deficiency | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked 1 | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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