Condition: HYPOMYELINATION AND CONGENITAL CATARACT
rs72549407
in
FAM126A
gene and
HYPOMYELINATION AND CONGENITAL CATARACT
PMID 16951682
2006 Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
PMID 23998934
2013 Novel FAM126A mutations in hypomyelination and congenital cataract disease.
PMID 21911699
2011 Hypomyelination and congenital cataract: broadening the clinical phenotype.
PMID 26571211
2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.