Gene Symbol | MLC1 |
Entrez Gene ID | 23209 |
Full Name | megalencephalic leukoencephalopathy with subcortical cysts 1 |
Synonyms | LVM,MLC,VL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |