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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MLC1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23209
Official gene symbolMLC1
Full namemegalencephalic leukoencephalopathy with subcortical cysts 1
Aliases,KIAA0027,LVM,MLC,VL,
Gene summaryThe 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]
LocationChromosome: 22   Locus: 22q13.33
Gene position50524358 - 50497820  Map Viewer
Gene orientationminus
Gene size26539 bp
Gene sequence
OMIM ID605908