Species Human Entrez 343641 | Human Mouse Ensembl ENSG00000166948 | |
Aliases TGM6, SCA35, TG6, TGM3L, TGY, dJ734P14.3, transglutaminase 6 External IDs MGI: 3044321 HomoloGene: 27970 GeneCards: TGM6 | ||
Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene.
Contents
Function
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 .
Model organisms
Model organisms have been used in the study of TGM6 function. A conditional knockout mouse line called Tgm6tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping