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mlc1

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Official Full Name
megalencephalic leukoencephalopathy with subcortical cysts 1
Background
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.
Synonyms
MLC1; megalencephalic leukoencephalopathy with subcortical cysts 1; membrane protein MLC1; KIAA0027; LVM; MLC; VL; si:ch211-192n14.1