Gene: FAM126A

Alternate names for this Gene: DRCTNNB1A|HCC|HLD5|HYCC1

Gene Summary: 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).

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.3

Description of this Gene: family with sequence similarity 126 member A

Type of Gene: protein-coding

rs2286490 in FAM126A gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

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.

rs2286490 in FAM126A gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.