Property Summary

NCBI Gene PubMed Count 17
Grant Count 5
R01 Count 4
Funding $521,976
PubMed Score 102.60
PubTator Score 31.16

Knowledge Summary

Patent

No data available

Synonym

Accession O95932 Q5JXU4 Q5JXU5 Q719M2 Q719M3 Q9Y4U8
Symbols TG6
TGY
SCA35
TGM3L
dJ734P14.3

Gene

PANTHER Protein Class (2)

Gene RIF (15)

PMID Text
25253745 Two missense mutations (p.R111C and p.D510H) and one 3-base pair deletion (p.E574del) in TGM6 were identified in Spinocerebellar ataxia 35.
24755948 TGM6 missense mutation cosegregated with AML in a large family.
24275721 Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
23800413 transglutaminase 6 could be involved in polyQ diseases.
23576621 Antibodies against TG6 are gluten-dependent and appear to be a sensitive and specific marker of glten ataxia.
23206699 this study analyzed the subcellular distribution, expression and in vitro activity of two missense mutations of TG6 (D327G, L517W) and found that both mutants exhibited decreased transglutaminase activity and stability.
22554020 Results indicate a mutation in the transglutaminase 6 (TGM6) gene (c.1528G>C) which showed co-segregation with disease phenotype in all nine members of this family.
22527681 New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing TMG6 genes causing ataxia.
21939789 Human inter-alpha-inhibitor is a substrate for factor XIIIa and tissue transglutaminase.
21453693 TG6 autoantibodies are not gluten-dependent
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AA Sequence

MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLELSRALDCEEILIFTMETGPRASEALHT      1 - 70
KAVFQTSELERGEGWTAAREAQMEKTLTVSLASPPSAVIGRYLLSIRLSSHRKHSNRRLGEFVLLFNPWC     71 - 140
AEDDVFLASEEERQEYVLSDSGIIFRGVEKHIRAQGWNYGQFEEDILNICLSILDRSPGHQNNPATDVSC    141 - 210
RHNPIYVTRVISAMVNSNNDRGVVQGQWQGKYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWVFAGV    211 - 280
LCTVLRCLGIATRVVSNFNSAHDTDQNLSVDKYVDSFGRTLEDLTEDSMWNFHVWNESWFARQDLGPSYN    281 - 350
GWQVLDATPQEESEGVFRCGPASVTAIREGDVHLAHDGPFVFAEVNADYITWLWHEDESRERVYSNTKKI    351 - 420
GRCISTKAVGSDSRVDITDLYKYPEGSRKERQVYSKAVNRLFGVEASGRRIWIRRAGGRCLWRDDLLEPA    421 - 490
TKPSIAGKFKVLEPPMLGHDLRLALCLANLTSRAQRVRVNLSGATILYTRKPVAEILHESHAVRLGPQEE    491 - 560
KRIPITISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEKDITLEDFITIKVLGPAMVGVAVTVEVTVVN    561 - 630
PLIERVKDCALMVEGSGLLQEQLSIDVPTLEPQERASVQFDITPSKSGPRQLQVDLVSPHFPDIKGFVIV    631 - 700
HVATAK                                                                    701 - 706
//

Text Mined References (17)

PMID Year Title
25253745 2014 Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
24755948 2015 Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
23800413 2013 Transglutaminase 6 interacts with polyQ proteins and promotes the formation of polyQ aggregates.
23576621 2013 Transglutaminase 6 antibodies in the diagnosis of gluten ataxia.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
23206699 2013 Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
22554020 2013 Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
22527681 2012 Recent advances in the genetics of cerebellar ataxias.
21984379 2013 Transglutaminase 6: a protein associated with central nervous system development and motor function.
More...