Gene Symbol: Fam126a
Description: family with sequence similarity 126, member A
Alias: AB030242, Drctnnb1a, hyccin, down-regulated by CTNNB1 protein A
- Dysregulation of the Wnt pathway inhibits timely myelination and remyelination in the mammalian CNSStephen P J Fancy
Institute for Regeneration Medicine, Howard Hughes Medical Institute, University of California at San Francisco, San Francisco, California 94143, USA
Genes Dev 23:1571-85. 2009..Evidence of Wnt pathway activity in human MS lesions suggests that its dysregulation might contribute to inefficient myelin repair in human neurological disorders...
- The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membraneJeremy M Baskin
Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Nat Cell Biol 18:132-8. 2016..Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown function...
- Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinElisabetta Gazzerro
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute, University of Genoa, Genoa, Italy
PLoS ONE 7:e32180. 2012..HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet...
- Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-cateninT Kawasoe
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
Cancer Res 60:3354-8. 2000..Here we report isolation of a novel murine gene, Drctnnb1a (down-regulated by Ctnnb1, a), the expression of which was experimentally down-regulated in response to the ..