Property Summary

NCBI Gene PubMed Count 20
PubMed Score 8.31
PubTator Score 13.71

Knowledge Summary

Patent

No data available

Expression

Gene RIF (7)

PMID Text
26571211 point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis
24417797 A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments.
23998934 Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families.
22749724 Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract
21911699 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
17928815 A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family.
16951682 Mutation of this gene results in defective myelination of both the central and peripheral nervous system.

AA Sequence

MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQ      1 - 70
LLQFTLQFLPELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPS     71 - 140
SIGSMALTESALSQHGLSKVVYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRI    141 - 210
CVCGYPRQHVRKYKGISSRIPVSSGFMVQMLTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVAN    211 - 280
AIKASLPHGPMKSNKEGTRCIQVEITPTSSRISRNAVTSMSIRGHRWKRHGNTELTGQEELMEISEVDEG    281 - 350
FYSRAASSTSQSGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGESCKDHFARKQTQRAQSENLEL    351 - 420
LSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANRFSACSLQEEK    421 - 490
LIYVSERTELPMKHQSGQQRPPSISITLSTD                                           491 - 521
//

Text Mined References (21)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26571211 2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
24417797 2014 Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23998934 2013 Novel FAM126A mutations in hypomyelination and congenital cataract disease.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22749724 2013 Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
21911699 2011 Hypomyelination and congenital cataract: broadening the clinical phenotype.
21254220 2011 Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17928815 2008 A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
16951682 2006 Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10910037 2000 Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.