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MLC1

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.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enriched (Astrocytes)

Immune cell specificity

Immune cell enhanced (NK-cell)

Cell line specificity

Cell line enhanced (HL-60, NB-4, THP-1, U-266/70, U-266/84)

Interaction

Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.

Molecular function

Ion channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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