Entity Details

Primary name TGM6
Entity type gene
Source Source Link

Details

PrimaryID343641
RefseqGeneNG_031917
SymbolTGM6
Nametransglutaminase 6
Chromosome20
Location20p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTGM3L_HUMAN

GO terms

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GOName
GO:0003810 protein-glutamine gamma-glutamyltransferase activity
GO:0005737 cytoplasm
GO:0018149 peptide cross-linking
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
613908 OMIMSpinocerebellar ataxia 35 (SCA35)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TGM6MRPS9BioGRID, IntAct30021884 details