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Details of SLC25A12 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SLC25A12 | ARALAR1 | O75746 | CMC1_HUMAN | 8604
| ENSG00000115840
| Calcium-binding mitochondrial carrier protein Aralar1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Global cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612949 |
