Aliases for FAM126A Gene
External Ids for FAM126A Gene
Previous GeneCards Identifiers for FAM126A Gene
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
GeneCards Summary for FAM126A Gene
FAM126A (Family With Sequence Similarity 126 Member A) is a Protein Coding gene. Diseases associated with FAM126A include Leukodystrophy, Hypomyelinating, 5 and Hypomyelination And Congenital Cataract. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is FAM126B.
UniProtKB/Swiss-Prot for FAM126A Gene
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 (Probable).