Gene: TGM6
Alternate names for this Gene: SCA35|TG6|TGM3L|TGY|dJ734P14.3
Gene Summary: 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.
Gene is located in Chromosome: 20
Location in Chromosome : 20p13
Description of this Gene: transglutaminase 6
Type of Gene: protein-coding
rs34972666 in
TGM6 gene and
Alzheimer's Disease
PMID 23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
rs201964784 in
TGM6 gene and
SPINOCEREBELLAR ATAXIA 35
PMID 22554020 2013 Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
PMID 23206699 2013 Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
PMID 25253745 2014 Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
PMID 21106500 2010 TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
rs6114027 in
TGM6 gene and
Tuberculosis
PMID 30287856 2018 Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese.