MLC1

MLC1

Megalencephalic leukoencephalopathy with subcortical cysts 1, also known as MLC1, is a human gene.cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23209| accessdate = ]

PBB_Summary
section_title =
summary_text = The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23209| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Nakajima D, Okazaki N, Yamakawa H, "et al." |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=
*cite journal | author=Nomura N, Miyajima N, Sazuka T, "et al." |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= 1995 |pmid= 7584026 |doi=
*cite journal | author=Nomura N, Miyajima N, Sazuka T, "et al." |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=
*cite journal | author=Kawai T, Nomura F, Hoshino K, "et al." |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
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |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
*cite journal | author=Leegwater PA, Yuan BQ, van der Steen J, "et al." |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 |year= 2001 |pmid= 11254442 |doi=
*cite journal | author=Meyer J, Huberth A, Ortega G, "et al." |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 |year= 2001 |pmid= 11326298 |doi= 10.1038/sj.mp.4000869
*cite journal | author=Leegwater PA, Boor PK, Yuan BQ, "et al." |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
*cite journal | author=McQuillin A, Kalsi G, Moorey H, "et al." |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 |year= 2003 |pmid= 12111645 |doi= 10.1038/sj.ejhg.5200837
*cite journal | author=Zhang D, Li F, Weidner D, "et al." |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
*cite journal | author=Ben-Zeev B, Levy-Nissenbaum E, Lahat H, "et al." |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
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=Rubie C, Lichtner P, Gärtner J, "et al." |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
*cite journal | author=Gevaert K, Goethals M, Martens L, "et al." |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
*cite journal | author=Saijo H, Nakayama H, Ezoe T, "et al." |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=
*cite journal | author=Patrono C, Di Giacinto G, Eymard-Pierre E, "et al." |title=Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. |journal=Neurology |volume=61 |issue= 4 |pages= 534–7 |year= 2004 |pmid= 12939431 |doi=
*cite journal | author=Tsujino S, Kanazawa N, Yoneyama H, "et al." |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
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |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
*cite journal | author=Gorospe JR, Singhal BS, Kainu T, "et al." |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=

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