MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis ...
Mar 7, 2013 · In the present study, we analyzed the genes causing autosomal recessive demyelinating CMT (CMT4) to further clarify the genetic background of Japanese patients.
Feb 8, 2022 · A familial charge‐inverting KIF1A‐E239K variant is associated with axonal‐type Charcot‐Marie‐Tooth disease and other cases of human neuropathies.
1, gene symbol, MTMR2, species, Homo sapiens (Human). protein Name, Myotubularin-related protein 2, num of unique AS variants, 2.
Jan 16, 2009 · Previtali et al. found that NEFL interacts with MTMR2 in both Schwann's cells and neurons. In addition, MTMR2 encodes a phosphatase and MTMR2 ...
Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), ...
実験的サービス公開サイトであるCiNii Labsを公開しました。 Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.
Because MTMR2 forms a heterotetramer with MTMR13 (9), mutation in MTMR2 and MTMR13 causes Charcot-Marie-Tooth disease (types 4B1 and 4B2, respectively), a ...
Aug 20, 2018 · KIF1Bβ is a kinesin-3 family anterograde motor protein essential for neuronal development, viability, and function. KIF1Bβ mutations have ...
Charcot-Marie-Tooth disease (CMT) is the most common phenotype of inherited peripheral neuropathy (IPN), the latter of which also encompass hereditary sensory ...