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TGM6

From Wikipedia, the free encyclopedia
TGM6
Identifiers
AliasesTGM6, SCA35, TG6, TGM3L, TGY, dJ734P14.3, transglutaminase 6
External IDsOMIM: 613900; MGI: 3044321; HomoloGene: 27970; GeneCards: TGM6; OMA:TGM6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198994
NM_001254734

NM_001289747
NM_001289748
NM_001289749
NM_177726

RefSeq (protein)

NP_001241663
NP_945345

n/a

Location (UCSC)Chr 20: 2.38 – 2.43 MbChr 2: 129.95 – 130 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene. [5]

Function and Clinical Significance

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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.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166948Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027403Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Transglutaminase 6". Retrieved 2014-04-29.
  6. ^ 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

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.