The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
Mutations in TGM6 cause acute myeloid leukaemia.[6] The presence of antibodies against TG6 is statistically related to gluten ataxia, amongst other conditions.
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000166948 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000027403 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Pan LL, Huang YM, Wang M, Zhuang XE, Luo DF, Guo SC, Zhang ZS, Huang Q, Lin SL, Wang SY (Feb 2015). "Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia". European Journal of Human Genetics. 23 (2): 218–23. doi:10.1038/ejhg.2014.67. PMC4297898. PMID 24755948.
Further readingedit
Lindfors K, Koskinen O, Laurila K, Collin P, Saavalainen P, Haimila K, Partanen J, Mäki M, Kaukinen K (Jun 2011). "IgA-class autoantibodies against neuronal transglutaminase, TG6 in celiac disease: no evidence for gluten dependency". Clinica Chimica Acta; International Journal of Clinical Chemistry. 412 (13–14): 1187–90. doi:10.1016/j.cca.2010.09.042. PMID 21453693.
Thomas H, Beck K, Adamczyk M, Aeschlimann P, Langley M, Oita RC, Thiebach L, Hils M, Aeschlimann D (Jan 2013). "Transglutaminase 6: a protein associated with central nervous system development and motor function". Amino Acids. 44 (1): 161–77. doi:10.1007/s00726-011-1091-z. PMC3535377. PMID 21984379.
Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, Farrer LA, Saykin AJ, Shulman JM, Naj A, Green RC (Jan 2014). "Genome-wide association study of the rate of cognitive decline in Alzheimer's disease". Alzheimer's & Dementia. 10 (1): 45–52. doi:10.1016/j.jalz.2013.01.008. PMC3760995. PMID 23535033.
Grenard P, Bates MK, Aeschlimann D (Aug 2001). "Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z". The Journal of Biological Chemistry. 276 (35): 33066–78. doi:10.1074/jbc.M102553200. PMID 11390390.
Hadjivassiliou M, Aeschlimann P, Strigun A, Sanders DS, Woodroofe N, Aeschlimann D (Sep 2008). "Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase". Annals of Neurology. 64 (3): 332–43. doi:10.1002/ana.21450. PMID 18825674. S2CID 39872358.
Stamnaes J, Dorum S, Fleckenstein B, Aeschlimann D, Sollid LM (Nov 2010). "Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia". Amino Acids. 39 (5): 1183–91. doi:10.1007/s00726-010-0554-y. PMID 20300788. S2CID 23702283.
Guan WJ, Wang JL, Liu YT, Ma YT, Zhou Y, Jiang H, Shen L, Guo JF, Xia K, Li JD, Tang BS (Jan 2013). "Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis". Biochemical and Biophysical Research Communications. 430 (2): 780–6. doi:10.1016/j.bbrc.2012.11.069. PMID 23206699.
Scavenius C, Sanggaard KW, Nikolajsen CL, Bak S, Valnickova Z, Thøgersen IB, Jensen ON, Højrup P, Enghild JJ (Dec 2011). "Human inter-α-inhibitor is a substrate for factor XIIIa and tissue transglutaminase". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1814 (12): 1624–30. doi:10.1016/j.bbapap.2011.08.017. PMID 21939789.
Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS (Dec 2010). "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing". Brain. 133 (Pt 12): 3510–8. doi:10.1093/brain/awq323. PMID 21106500.
tgm6, transglutaminase, protein, that, humans, encoded, gene, identifiersaliases, sca35, tgm3l, dj734p14, transglutaminase, 6external, idsomim, 613900, 3044321, homologene, 27970, genecards, gene, location, human, chromosome, human, band20p13start2, end2, gene. Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene 5 TGM6IdentifiersAliasesTGM6 SCA35 TG6 TGM3L TGY dJ734P14 3 transglutaminase 6External IDsOMIM 613900 MGI 3044321 HomoloGene 27970 GeneCards TGM6Gene location Human Chr Chromosome 20 human 1 Band20p13Start2 380 901 bp 1 End2 432 753 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 2 F1Start129 954 336 bp 2 End129 996 152 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inbone marrow cellsthymusstriated muscle tissueskeletal muscle tissueurinary bladdermammary glandbreastcervixliverkidneyTop expressed inhair folliclelipskin of backskin of abdomensecondary oocytespermatocyterenal corpusclespermatidMore reference expression dataBioGPSn aGene ontologyMolecular functiontransferase activity acyltransferase activity protein glutamine gamma glutamyltransferase activity metal ion bindingCellular componentcytoplasmBiological processpeptide cross linkingSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez343641241636EnsemblENSG00000166948ENSMUSG00000027403UniProtO95932n aRefSeq mRNA NM 198994NM 001254734NM 001289747NM 001289748NM 001289749NM 177726RefSeq protein NP 001241663NP 945345n aLocation UCSC Chr 20 2 38 2 43 MbChr 2 129 95 130 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction and Clinical Significance editThe protein encoded by this gene belongs to the transglutaminase superfamily It catalyzes the cross linking of proteins and the conjugation of polyamines to proteins Mutations in this gene are associated with spinocerebellar ataxia type 35 SCA35 Alternatively spliced transcript variants encoding different isoforms have been found for this gene provided by RefSeq Dec 2011 Mutations in TGM6 cause acute myeloid leukaemia 6 The presence of antibodies against TG6 is statistically related to gluten ataxia amongst other conditions References edit a b c GRCh38 Ensembl release 89 ENSG00000166948 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000027403 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene Transglutaminase 6 Retrieved 2014 04 29 Pan LL Huang YM Wang M Zhuang XE Luo DF Guo SC Zhang ZS Huang Q Lin SL Wang SY Feb 2015 Positional cloning and next generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia European Journal of Human Genetics 23 2 218 23 doi 10 1038 ejhg 2014 67 PMC 4297898 PMID 24755948 Further reading editLindfors K Koskinen O Laurila K Collin P Saavalainen P Haimila K Partanen J Maki M Kaukinen K Jun 2011 IgA class autoantibodies against neuronal transglutaminase TG6 in celiac disease no evidence for gluten dependency Clinica Chimica Acta International Journal of Clinical Chemistry 412 13 14 1187 90 doi 10 1016 j cca 2010 09 042 PMID 21453693 Thomas H Beck K Adamczyk M Aeschlimann P Langley M Oita RC Thiebach L Hils M Aeschlimann D Jan 2013 Transglutaminase 6 a protein associated with central nervous system development and motor function Amino Acids 44 1 161 77 doi 10 1007 s00726 011 1091 z PMC 3535377 PMID 21984379 Sherva R Tripodis Y Bennett DA Chibnik LB Crane PK de Jager PL Farrer LA Saykin AJ Shulman JM Naj A Green RC Jan 2014 Genome wide association study of the rate of cognitive decline in Alzheimer s disease Alzheimer s amp Dementia 10 1 45 52 doi 10 1016 j jalz 2013 01 008 PMC 3760995 PMID 23535033 Grenard P Bates MK Aeschlimann D Aug 2001 Evolution of transglutaminase genes identification of a transglutaminase gene cluster on human chromosome 15q15 Structure of the gene encoding transglutaminase X and a novel gene family member transglutaminase Z The Journal of Biological Chemistry 276 35 33066 78 doi 10 1074 jbc M102553200 PMID 11390390 Hadjivassiliou M Aeschlimann P Strigun A Sanders DS Woodroofe N Aeschlimann D Sep 2008 Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase Annals of Neurology 64 3 332 43 doi 10 1002 ana 21450 PMID 18825674 S2CID 39872358 Stamnaes J Dorum S Fleckenstein B Aeschlimann D Sollid LM Nov 2010 Gluten T cell epitope targeting by TG3 and TG6 implications for dermatitis herpetiformis and gluten ataxia Amino Acids 39 5 1183 91 doi 10 1007 s00726 010 0554 y PMID 20300788 S2CID 23702283 Guan WJ Wang JL Liu YT Ma YT Zhou Y Jiang H Shen L Guo JF Xia K Li JD Tang BS Jan 2013 Spinocerebellar ataxia type 35 SCA35 associated transglutaminase 6 mutants sensitize cells to apoptosis Biochemical and Biophysical Research Communications 430 2 780 6 doi 10 1016 j bbrc 2012 11 069 PMID 23206699 Scavenius C Sanggaard KW Nikolajsen CL Bak S Valnickova Z Thogersen IB Jensen ON Hojrup P Enghild JJ Dec 2011 Human inter a inhibitor is a substrate for factor XIIIa and tissue transglutaminase Biochimica et Biophysica Acta BBA Proteins and Proteomics 1814 12 1624 30 doi 10 1016 j bbapap 2011 08 017 PMID 21939789 Wang JL Yang X Xia K Hu ZM Weng L Jin X Jiang H Zhang P Shen L Guo JF Li N Li YR Lei LF Zhou J Du J Zhou YF Pan Q Wang J Wang J Li RQ Tang BS Dec 2010 TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing Brain 133 Pt 12 3510 8 doi 10 1093 brain awq323 PMID 21106500 This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title TGM6 amp oldid 1189354867, wikipedia, wiki, book, books, library,
