Protein Domain : Membrane protein MLC1 IPR033280

Type  Family
Description  MLC1 is a membrane protein, mainly expressed in brain astrocytes, that plays a role in astrocyte osmo-homeostasis [ ]. Mutations in the MLC1 gene are linked to a rare leukodystrophy known as megalencephalic leukoencephalopathy with subcortical cysts (MLC). Several studies suggest that MLC1 plays a role in the regulation of ion and water fluxes and cell volume, but its exact function is not known []. It binds the beta-1 subunit of the Na,K-ATPase enzyme [], and interacts with the calcium permeable channel TRPV4 [] and the vacuolar ATPase (V-ATPase) [].
Short Name  Membrane_MLC1

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