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Jan 15, 2026 · FRMPD4 (FERM And PDZ Domain Containing 4) is a Protein Coding gene. Diseases associated with FRMPD4 include Intellectual Developmental Disorder, X-Linked 104 and Non-Syndromic X-Linked Intellectual Disability.
Feb 15, 2018 · FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/...
Jan 8, 2025 · 本文将详细介绍FRMPD4基因的功能、作用机制、信号通路以及与疾病的关系，帮助读者全面理解这一基因在生物学中的重要性。 FRMPD4基因概述 FRMPD4，全称FERM and PDZ domain containing 4 ，是一个位于X染色体短臂22.2区域（Xp22.2）的基因。
FRMPD4 is a neural scaffolding protein with abundant expression in the brain cortex and hippocampus. It interacts with several proteins, including PSD95 (DLG4; 602887), and regulates the formation of excitatory synaps...
Dec 18, 2017 · In this study, we describe systematic genetic and functional characterization of deleterious FRMPD4 mutations in 4 unrelated XLID families, and behavioral analysis of a line of frmpd4-KO mice on learnin...
FRMPD4 ... FERM and PDZ domain containing 4 is a protein that in humans is encoded by the FRMPD4 gene. [5]
FRMPD4的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为该基??因编码一个多域（WW，PDZ，FERM）含蛋白质。 通过其跨与其它蛋白质（例如PSD-95）的动作，它用作树突棘形态和密度的正调节，并且需要用于维护兴奋性突触传递的。
含 FERM 和 PDZ 结构域 4： 该基因编码含有蛋白质的多结构域 (WW、PDZ、FERM) 。 通过与其他蛋白质 (如 PSD-95) 的相互作用，它作为树突棘形态发生和密度的正调节剂发挥作用，并且是维持兴奋性突触传递所必需的。 [RefSeq 提供，2010 年 1 月]
The findings point to an important role of FRMPD4 in normal cognitive development and function in humans and mice, and support the hypothesis that FRMPD4 mutations cause ID by disrupting dendritic spine morphogenesis ...
Piard et al., 2017 presented two novel families with four affected males carrying FRMPD4 mutations; three of these affected males presented with ASD in addition to intellectual disability, gross motor delay, and speech delay.
