Entity Details
Details
PrimaryID | 343641 |
RefseqGene | NG_031917 |
Symbol | TGM6 |
Name | transglutaminase 6 |
Chromosome | 20 |
Location | 20p13 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2003-03-28 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
613908 | OMIM | Spinocerebellar 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