MLC1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.[1][2]
MLC1 (also called WKL1[3][4]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).[5] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.
Function
[edit | edit source]The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein.[3] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.[5]
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.[3]
References
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Further reading
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External links
[edit | edit source]
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