TGM6

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

TGM6
Identifiers
Aliases	TGM6, SCA35, TG6, TGM3L, TGY, dJ734P14.3, transglutaminase 6
External IDs	OMIM: 613900; MGI: 3044321; HomoloGene: 27970; GeneCards: TGM6; OMA:TGM6 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p13 Start 2,380,901 bp[1] End 2,432,753 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 129,954,336 bp[2] End 129,996,152 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of colon bone marrow cell tonsil striated muscle tissue skeletal muscle tissue gonad urinary bladder mammary gland female breast lactiferous gland Top expressed in hair follicle lip embryo skin of back zygote skin of abdomen secondary oocyte spermatocyte renal corpuscle spermatid More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity acyltransferase activity protein-glutamine gamma-glutamyltransferase activity metal ion binding Cellular component cytoplasm Biological process peptide cross-linking Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 343641 241636 Ensembl ENSG00000166948 ENSMUSG00000027403 UniProt O95932 n/a 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 Mb Chr 2: 129.95 – 130 Mb PubMed search [3] [4]
Wikidata
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Function and Clinical Significance

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.