MLC1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.[5][6]
MLC1 (also called WKL1[7][8]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).[9] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.
Function
The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein.[7] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.[9]
The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6. Furthermore, MLC1 has highest homology with the KCNA1 shaker-related voltage-gated potassium channel (Kv1.1). This analysis suggests that MLC1 may be a cation channel.[7]
