Apr 7, 2024 · In the adult CNS, Fig4 is dispensable for fiber stability and nerve conduction, but is required for the timely repair of damaged white matter.
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What does Fig4 do?
Is Charcot-Marie-Tooth disease dominant or recessive?
Apr 3, 2024 · FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include Polymicrogyria, Bilateral ...
FIG4 is a phosphoinositide phosphatase that is mutated in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome (YVS).
Fig4 ... Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme ...
FIG4 is a PtdIns(3,5)P2 5-phosphatase that functions in a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this ...
Jan 4, 2017 · Our study provides evidence for FIG4 as an ALS risk gene in a central European cohort, adds new variants to the mutational spectrum, links ALS ...
Jun 26, 2008 · FIG4 encodes a lipid phosphatase that specifically targets phosphotidylinositol 3,5-bisphosphate (PtdIns[3,5]P2) at position 5 of its inositol ...
The data demonstrate that FIG4-I41T is a hypomorphic allele encoding a protein that is unstable in vivo. Expression of FIG4-I41T protein at 10% of normal level ...
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, ...
Background. Charcot-Marie-Tooth disease type 4J (CMT4J) originates from mutations in the FIG4 gene and leads to distal muscle weakness. Two null alleles of FIG4 ...