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Details of SPTAN1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SPTAN1 | NEAS,SPTA2 | Q13813 | SPTN1_HUMAN | 6709
| ENSG00000197694
| Spectrin alpha chain, non-erythrocytic 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Epileptic encephalopathy, early infantile, 5 (EIEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613477 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
