Literature associating FAM126A and hypomyelinating leukodystrophy
FAM126A [ENSP00000403396]
Hyccin; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane . The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis . FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P . Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system . May also have a role in the beta- catenin/Lef signaling pathway (Probable).
Synonyms: FAM126A, FAM126Ap, hFAM126A, B8ZZA2, H7C0W7 ...