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.

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.

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 …

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. High PMP2 expression is associated with 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.

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.

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.

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.

PMP2 is present in Schwann cells in the peripheral nervous system (PNS) and is a part of the highly conserved fatty acid-binding proteins (FABPs) family. PMP2 is involved in lipid homeostasis of myelin and may play a role in remyelination of the injured PNS [13,14].

Surprisingly, Pmp2, encoding for a myelin fatty acid binding protein, is the only gene whose expression increases in Schwann cells following overexpression of axonal NRG1t3. Here, we demonstrate PMP2 expression is directly regulated by …

2021年11月9日 · We show that peripheral myelin protein 2 (PMP2), a member of the fatty-acid-binding protein (FABP) family, can localize at the PM and controls the transbilayer distribution of SM. Genetic screening with genome-wide small hairpin RNA libraries identifies PMP2 as a protein involved in the transbilayer movement of SM.