Membrane protein MLC1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MLC1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
MLC1 (also called ''WKL1''
) is the only human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
currently associated with
megalencephalic leukoencephalopathy with subcortical cysts (MLC).
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
A membrane transport protein is a membrane protein involved in the movement of ions, small molecules, and macromolecules, such as another protein, across a biological membrane. Transport proteins are integral membrane proteins, integral transmembr ...
.
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
v1.1). This analysis suggests that MLC1 may be a cation channel.
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts
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