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Details of SYNE1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SYNE1 | C6orf98,KIAA0796,KIAA1262,KIAA1756,MYNE1 | Q8NF91 | SYNE1_HUMAN | 23345
| ENSG00000131018
| Nesprin-1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar ataxia is 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. SCAR8 is an autosomal recessive form. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610743 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612998 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Syne1 | --- | anc-1 | Sp-Syne1 |
