As a structural protein, P2 is thought to stabilize the myelin membranes, and may play a role in lipid transport in Schwann cells. Structurally, P2 belongs to the family of cytoplasmic fatty acid-binding proteins (FABPs). ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

2024年12月25日 · PMP2 (Peripheral Myelin Protein 2) is a Protein Coding gene. Diseases associated with PMP2 include Charcot-Marie-Tooth Disease, Demyelinating, Type 1G and Charcot-Marie-Tooth Disease Type 1G. Among its related pathways are Nuclear receptors meta-pathway and Glucocorticoid receptor pathway.

髓鞘蛋白P2 （英語： Myelin P2 protein）是一个由人类 基因 PMP2 编码的 蛋白质 [1][2][3]。 ^ Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K. Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin. Biochem Biophys Res Commun. Jan 1992, 181 (1): 204–7. PMID …

Restricted expression toward brain (RPKM 121.5). 由该基因编码的蛋白质定位于周围神经系统的髓鞘。 编码的蛋白质可以结合鞘的膜层和单体脂质，并被认为可以为鞘提供稳定性。 该基因的缺陷被证明是显性脱髓鞘性 CMT 神经病的原因。 [RefSeq 提供，2017 年 1 月] The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system.

2025年1月4日 · Clinical resource with information about PMP2, Charcot-Marie-Tooth disease, demyelinating, type 1G, GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer., and available tests.

2021年6月17日 · Peripheral myelin protein 2 (P2) is a fatty acid-binding protein expressed in vertebrate peripheral nervous system myelin, as well as in human astrocytes. Suggested functions of P2 include membrane stacking and lipid transport. Mutations in the PMP2 gene, encoding P2, are associated with Charcot–Marie–Tooth disease (CMT).

2025年1月8日 · 本文详细介绍了pmp2基因的功能、作用机制、信号通路及其与疾病的关系，帮助读者全面理解这一重要基因。 pmp2基因简介. pmp2基因，也叫mp2、fabp8或m-fabp，是一个位于8号染色体q21.13位置的基因，编码蛋白质产品。

2024年11月27日 · Title: The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion. These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients.

This report might expand the genetic and clinical features of Charcot-Marie-Tooth disease and a further mechanism study will enhance our understanding of PMP2-associated peripheral neuropathy. The structure of human P2 refined at the ultrahigh resolution of 0.93 A allows detailed structural analyses, including the full organization of an ...

Peripheral myelin protein 2 (P2) is a fatty acid-binding protein expressed in vertebrate peripheral nervous system myelin, as well as in human astrocytes. Suggested functions of P2 include membrane stacking and lipid transport. Mutations in the PMP2 gene, encoding P2, are associated with Charcot-Mar …