Family

Membrane protein MLC1 (IPR033280)

Short name: Membrane_MLC1

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

MLC1 is a membrane protein, mainly expressed in brain astrocytes, that plays a role in astrocyte osmo-homeostasis [PMID: 22328087]. 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 [PMID: 25883547]. It binds the beta-1 subunit of the Na,K-ATPase enzyme [PMID: 20926452], and interacts with the calcium permeable channel TRPV4 [PMID: 22328087] and the vacuolar ATPase (V-ATPase) [PMID: 24561067].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER