Property Summary

NCBI Gene PubMed Count 20
Grant Count 3
Funding $90,374.5
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.
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