MLC1
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 unknown; 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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100427 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035805 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1994). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
- ^ Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". Am. J. Hum. Genet. 68 (4): 831–8. doi:10.1086/319519. PMC 1275636. PMID 11254442.
- ^ a b c Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (May 2001). "A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree". Mol. Psychiatry. 6 (3): 302–6. doi:10.1038/sj.mp.4000869. PMID 11326298.
- ^ McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM (August 2002). "A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia". Eur. J. Hum. Genet. 10 (8): 491–4. doi:10.1038/sj.ejhg.5200837. PMID 12111645.
- ^ a b "Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1".
Further reading
External links
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