FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.

1998年6月16日 · FMR1 related disorders are caused by CGG trinucleotide repeat expansion in the 5' UTR of FMR1 with abnormal gene methylation for most alleles with more than 200 repeats. Typically, a definite diagnosis of FXS requires the presence of a full-mutation repeat size (>200 CGG repeats) while the diagnosis of FXTAS or FXPOI is associated with a ...

2024年12月25日 · FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a Protein Coding gene. Diseases associated with FMR1 include Fragile X Syndrome and Premature Ovarian Failure 1. Among its related pathways are Serotonin and anxiety and Fragile X syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.

2021年2月19日 · Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that — when epigenetically inactivated by a...

2023年5月17日 · Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and...

脆性x综合征(fxs)是一种常见的遗传性精神发育迟滞，遗传性智力低下也是引起孤独症谱系障碍(asd)最常见的单基因疾病。 致病基因是fmr1基因，其编码的脆性x染色体智力迟钝蛋白（fmrp）在神经细胞以及睾丸精原细胞中…

fragile X messenger ribonucleoprotein 1, FMRP translational regulator 1, synaptic functional regulator FMR1. Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation.

The FMR1 gene premutation (55 to 200 CGG repeats) is associated with a variety of neurological problems grouped as fragile X-associated neuropsychiatric disorders (FXAND). Children with a premutation can have learning disabilities, attention-deficit/hyperactivity disorder (ADHD), intellectual disability, or developmental disorders that affect ...

2001年9月1日 · FMR1 is highly conserved at the sequence and amino acid level as evidenced by its presence in the human, mouse, Caenorhabditis elegans, Xenopus laevis, Drosophila melanogaster, and chicken. 1, 3...

三核苷酸重复的扩展也可能导致一种形式的卵巢早衰 (POF1) 。 已经针对该基因描述了编码不同蛋白质同种型并位于不同细胞位置的多个可变剪接转录物变体。 [RefSeq 提供，2010 年 5 月] 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.