(Family with Sequence Similarity 126, Member A (FAM126A))
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].
Gazzerro, Baldassari, Giacomini, Musante, Fruscione, La Padula, Biancheri, Scarfì, Prada, Sotgia, Duncan, Zara, Werner, Lisanti, Nobbio, Corradi, Minetti: "Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein." in: PLoS ONE, Vol. 7, Issue 3, pp. e32180, (2012) (PubMed).
Aliases for FAM126A 抗体
family with sequence similarity 126 member A (FAM126A) 抗体 family with sequence similarity 126, member A (Fam126a) 抗体 family with sequence similarity 126, member A (fam126a) 抗体 family with sequence similarity 126 member A (Fam126a) 抗体 family with sequence similarity 126 member A S homeolog (fam126a.S) 抗体 AB030242 抗体 DRCTNNB1A 抗体 Drctnnb1a 抗体 fam126a 抗体 HCC 抗体 HLD5 抗体 HYCC1 抗体 RGD1562906 抗体 zgc:77228 抗体