Entrez gene ID | | 23209 |
Official gene symbol | | MLC1 |
Full name | | megalencephalic leukoencephalopathy with subcortical cysts 1 |
Aliases | | ,KIAA0027,LVM,MLC,VL, |
Gene 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] |
Location | | Chromosome: 22 Locus: 22q13.33 |
Gene position | | 50524358 - 50497820 Map Viewer |
Gene orientation | | minus |
Gene size | | 26539 bp |
Gene sequence |
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OMIM ID | | 605908 |
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