Disease-gene associations mined from literature

Literature associating FAM126A and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM