Gene Symbol | SLC13A5 |
Entrez Gene ID | 284111 |
Full Name | solute carrier family 13 member 5 |
Synonyms | EIEE25,INDY,NACT,mIndy |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 25, 615905 (3) |