MLC1
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Membrane protein MLC1 (also called WKL1 ) is a protein that in humans is encoded by the MLC1 gene. MLC1 is one of four major genes associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). The other three are GPRC5B, HEPACAM, and AQP4.
Membrane protein MLC1 (also called WKL1 ) is a protein that in humans is encoded by the MLC1 gene. MLC1 is one of four major genes associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). The other three are GPRC5B, HEPACAM, and AQP4.
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. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. 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 (K v 1.1). This analysis suggests that MLC1 may be a cation channel.
References
Further reading
External links
GeneReviews/NIH/NCBI/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts
Text derived from https://en.wikipedia.org/w/index.php?oldid=1368615021 under CC BY-SA 4.0; modifications have been made.