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The protein encoded by FAM126A may play a part in the beta-catenin/Lef signaling pathway.
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Human Polyclonal FAM126A Primary Antibody for WB - ABIN442863
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 2012
point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis
A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments.
Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families.
Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract
Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype
A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family.
Data show that in the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10) and then declined in adult mice.
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).
down regulated by Ctnnb1, a
, down-regulated by CTNNB1 protein A
, down-regulated by Ctnnb1, a
, down-regulated by Ctnnb1, A
, family with sequence similarity 126, member A
, uncharacterized protein LOC431909