{{cs1 config|name-list-style=vanc}} {{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Membrane protein MLC1''' is a [[protein]] that in humans is encoded by the ''MLC1'' [[gene]].<ref name="pmid7584026">{{cite journal |vauthors=Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S | title = 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 | journal = DNA Res. | volume = 1 | issue = 1 | pages = 27–35 | year = 1994 | pmid = 7584026 | doi = 10.1093/dnares/1.1.27| doi-access = free }}</ref><ref name="pmid11254442">{{cite journal |vauthors=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 | title = Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts | journal = Am. J. Hum. Genet. | volume = 68 | issue = 4 | pages = 831–8 |date=April 2001 | pmid = 11254442 | pmc = 1275636 | doi = 10.1086/319519 }}</ref>
'''MLC1''' (also called ''WKL1''<ref name="pmid11326298">{{cite journal |vauthors=Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP | title = A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree | journal = Mol. Psychiatry | volume = 6 | issue = 3 | pages = 302–6 |date=May 2001 | pmid = 11326298 | doi = 10.1038/sj.mp.4000869 | doi-access = free }}</ref><ref name="pmid12111645">{{cite journal |vauthors=McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM | title = A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia | journal = Eur. J. Hum. Genet. | volume = 10 | issue = 8 | pages = 491–4 |date=August 2002 | pmid = 12111645 | doi = 10.1038/sj.ejhg.5200837 | doi-access = free }}</ref>) is the only human [[gene]] currently associated with [[megalencephalic leukoencephalopathy with subcortical cysts]] (MLC).<ref name="entrez">{{cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=23209}}</ref> 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]].<ref name="pmid11326298"/> Mutations in this gene have been associated with [[megalencephalic leukoencephalopathy with subcortical cysts]], an autosomal recessive neurological disorder.<ref name="entrez"/>
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 [[Kv1.1|KCNA1]] shaker-related voltage-gated potassium channel (K<sub>v</sub>1.1). This analysis suggests that MLC1 may be a cation channel.<ref name="pmid11326298"/>
==References== {{reflist}}
==Further reading== {{refbegin | 2}} *{{cite journal |vauthors=Nakajima D, Okazaki N, Yamakawa H, etal |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 |doi-access=free }} *{{cite journal |vauthors=Nomura N, Miyajima N, Sazuka T, etal |title=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 (supplement). |journal=DNA Res. |volume=1 |issue= 1 |pages= 47–56 |year= 1995 |pmid= 7584028 |doi=10.1093/dnares/1.1.47 |doi-access=free }} *{{cite journal |vauthors=Kawai T, Nomura F, Hoshino K, etal |title=Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity. |journal=Oncogene |volume=18 |issue= 23 |pages= 3471–80 |year= 1999 |pmid= 10376525 |doi= 10.1038/sj.onc.1202701 |s2cid=19035227 |doi-access= }} *{{cite journal |vauthors=Dunham I, Shimizu N, Roe BA, etal |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 |bibcode=1999Natur.402..489D |doi-access= free }} *{{cite journal |vauthors=Leegwater PA, Boor PK, Yuan BQ, etal |title=Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. |journal=Hum. Genet. |volume=110 |issue= 3 |pages= 279–83 |year= 2002 |pmid= 11935341 |doi= 10.1007/s00439-002-0682-x |s2cid=52319912 }} *{{cite journal |vauthors=Zhang D, Li F, Weidner D, etal |title=Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone. |journal=J. Biol. Chem. |volume=277 |issue= 40 |pages= 37430–8 |year= 2002 |pmid= 12149273 |doi= 10.1074/jbc.M207413200 |doi-access= free }} *{{cite journal |vauthors=Ben-Zeev B, Levy-Nissenbaum E, Lahat H, etal |title=Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. |journal=Hum. Genet. |volume=111 |issue= 2 |pages= 214–8 |year= 2002 |pmid= 12189496 |doi= 10.1007/s00439-002-0770-y |s2cid=25452424 }} *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }} *{{cite journal |vauthors=Rubie C, Lichtner P, Gärtner J, etal |title=Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? |journal=Hum. Mutat. |volume=21 |issue= 1 |pages= 45–52 |year= 2003 |pmid= 12497630 |doi= 10.1002/humu.10145 |s2cid=41349460 |doi-access=free }} *{{cite journal |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 |s2cid=23783563 }} *{{cite journal |vauthors=Saijo H, Nakayama H, Ezoe T, etal |title=A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. |journal=Brain Dev. |volume=25 |issue= 5 |pages= 362–6 |year= 2003 |pmid= 12850517 |doi=10.1016/S0387-7604(03)00006-8 |s2cid=20304086 }} *{{cite journal |vauthors=Patrono C, Di Giacinto G, Eymard-Pierre E, etal |title=Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. |journal=Neurology |volume=61 |issue= 4 |pages= 534–7 |year= 2004 |pmid= 12939431 |doi= 10.1212/01.wnl.0000076184.21183.ca|s2cid=43645063 }} *{{cite journal |vauthors=Tsujino S, Kanazawa N, Yoneyama H, etal |title=A common mutation and a novel mutation in Japanese patients with van der Knaap disease. |journal=J. Hum. Genet. |volume=48 |issue= 12 |pages= 605–8 |year= 2004 |pmid= 14615938 |doi= 10.1007/s10038-003-0085-4 |doi-access= free }} *{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }} *{{cite journal |vauthors=Gorospe JR, Singhal BS, Kainu T, etal |title=Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. |journal=Neurology |volume=62 |issue= 6 |pages= 878–82 |year= 2004 |pmid= 15037685 |doi= 10.1212/01.wnl.0000115106.88813.5b|s2cid=6463695 }} {{refend}}
==External links== * [https://www.ncbi.nlm.nih.gov/books/NBK1535/ GeneReviews/NIH/NCBI/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts]
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