Description
The selective RNA-binding protein FMRP forms a messenger ribonucleoprotein complex that associates with polyribosomes, suggesting that it is involved in translation (Jin et al., 2004). The FMR1 gene is mutated in fragile X mental retardation syndrome (300624) and fragile X tremor/ataxia syndrome (FXTAS; 300623).
RNA結合タンパク質。mRNAと結合しポリリボソーム形成に関与することから、転写に関わるタンパク質と考えられる。
Function
Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression By similarity. RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).
転写抑制因子。他のタンパク質と複合体を作り、mRNAのキャップに結合し、翻訳の抑制を行う。
Involvement in disease
Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. Ref.11 Ref.13 Ref.28 Ref.29 Ref.30 Ref.32 Ref.34 Ref.35
欠損は脆弱Ｘ症候群の原因となる。遺伝病として一般的。中程度から重篤な精神発達遅滞の原因である。精巣の巨大化、大きな耳介、突出した顎、甲高いおどけた声が特徴である。
Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. Ref.33
Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. Ref.16
