| Primary Identifier | IPR033280 | Type | Family |
| Short Name | Membrane_MLC1 |
| 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) []. |
