Aliases for MLC1 Gene
External Ids for MLC1 Gene
Previous GeneCards Identifiers for MLC1 Gene
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for MLC1 Gene
MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1) is a Protein Coding gene. Diseases associated with MLC1 include Megalencephalic Leukoencephalopathy With Subcortical Cysts and Mlc1-Related Megalencephalic Leukoencephalopathy With Subcortical Cysts. Among its related pathways are MAPK-Erk Pathway and Colorectal Cancer Metastasis. GO annotations related to this gene include transporter activity and protein transporter activity.
UniProtKB/Swiss-Prot for MLC1 Gene
Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx.