Immunogen sequence: SYDVLLLLLL LVLLLQAGLN TGTAIQCVRF KVSARLQGAS WDTQNGPQER LAGEVARSPL KEFDKEKAWR AVVVQMAQ; Positive Samples: SH-SY5Y; Cellular Location: Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Multi-pass membrane protein, perinuclear region
MLC1 may be a transporter. It may act as a non-selective neuronal cation channel.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.
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Protein Aliases: Membrane protein MLC1
Gene Aliases: AW048630; BB074274; KIAA0027; Kiaa0027-hp; LVM; mKIAA0027; MLC; MLC1; VL; WKL1