TGM6 Chromosome 20
Transglutaminase 6
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What This Gene Does
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]
Gene Info
Gene Group
Transglutaminases
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000166948
Associated Conditions (5)
Inborn genetic diseases
TGM6-related disorder
Spinocerebellar ataxia type 35
Polyneuropathy
Acute myeloid leukemia
Key Variants
RS1056866797
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS12106280
Conflicting classifications of pathogenicity
Inborn genetic diseases, TGM6-related disorder, Inborn genetic diseases
Health Risk
RS1222726216
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
Health Risk
RS1347908694
Conflicting classifications of pathogenicity
Health Risk
RS141071237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142406714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143085842
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144201778
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 35, TGM6-related disorder
Health Risk
RS145018385
Conflicting classifications of pathogenicity
Health Risk
RS147591485
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148696208
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
Health Risk
RS150088385
Conflicting classifications of pathogenicity
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766605124 | Health Risk | Pathogenic | Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35 |
| RS793888526 | Health Risk | Pathogenic | Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35 |