機能Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway.
組織特異性Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
関連疾患Leukodystrophy, hypomyelinating, 5
配列類似性Belongs to the FAM126 family.
細胞内局在Cytoplasm, cytosol. Cell membrane. Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex.