membrane protein MLC1 (MLC1, KIAA0027, WKL1)

Function

• may be a transporter
• may act as a non-selective neuronal cation channel

Compartment

membrane

Expression

• expressed in brain
• highest levels in the amygdala, caudate nucleus, thalamus, hippocampus

Pathology

• defects in MLC1 are a cause of megalencephalic leukoencephalopathy with subcortical cysts
• defects in MLC1 are a cause of periodic catatonia

Laboratory

• MLC1 gene mutation

More general terms

• carrier protein (transporter)
• ion channel
• transmembrane 6 protein

Database

• OMIM: https://mirror.omim.org/entry/604004
• OMIM: https://mirror.omim.org/entry/605908
• UniProt: http://www.uniprot.org/uniprot/Q15049.html