MLC1

From Wikipedia, the free encyclopedia

Megalencephalic leukoencephalopathy with subcortical cysts 1

Identifiers

MLC1; KIAA0027; LVM; MLC; VL

External IDs

OMIM: 605908 MGI: 2157910 HomoloGene: 15775

Gene ontology
Molecular Function:	• molecular_function • structural constituent of ribosome • ion channel activity
Cellular Component:	• integral to membrane of membrane fraction • intracellular • ribosome • membrane • integral to membrane
Biological Process:	• translation • ion transport • biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_015166 (mRNA)
NP_055981 (protein)

NM_133241 (mRNA)
NP_573504 (protein)

Location

Chr 22: 48.84 - 48.87 Mb

Chr 15: 88.78 - 88.81 Mb

Pubmed search

[1]

[2]

Megalencephalic leukoencephalopathy with subcortical cysts 1, also known as MLC1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1.

[edit] Further reading

Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99-106. PMID 12168954.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "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. PMID 7584026.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "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).". DNA Res. 1 (1): 47-56. PMID 7584028.
Kawai T, Nomura F, Hoshino K, et al. (1999). "Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity.". Oncogene 18 (23): 3471-80. doi:10.1038/sj.onc.1202701. PMID 10376525.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208.
Leegwater PA, Yuan BQ, van der Steen J, et al. (2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.". Am. J. Hum. Genet. 68 (4): 831-8. PMID 11254442.
Meyer J, Huberth A, Ortega G, et al. (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.
Leegwater PA, Boor PK, Yuan BQ, et al. (2002). "Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.". Hum. Genet. 110 (3): 279-83. doi:10.1007/s00439-002-0682-x. PMID 11935341.
McQuillin A, Kalsi G, Moorey H, et al. (2003). "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.
Zhang D, Li F, Weidner D, et al. (2002). "Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone.". J. Biol. Chem. 277 (40): 37430-8. doi:10.1074/jbc.M207413200. PMID 12149273.
Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al. (2002). "Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.". Hum. Genet. 111 (2): 214-8. doi:10.1007/s00439-002-0770-y. PMID 12189496.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Rubie C, Lichtner P, Gärtner J, et al. (2003). "Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?". Hum. Mutat. 21 (1): 45-52. doi:10.1002/humu.10145. PMID 12497630.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566-9. doi:10.1038/nbt810. PMID 12665801.
Saijo H, Nakayama H, Ezoe T, et al. (2003). "A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.". Brain Dev. 25 (5): 362-6. PMID 12850517.
Patrono C, Di Giacinto G, Eymard-Pierre E, et al. (2004). "Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.". Neurology 61 (4): 534-7. PMID 12939431.
Tsujino S, Kanazawa N, Yoneyama H, et al. (2004). "A common mutation and a novel mutation in Japanese patients with van der Knaap disease.". J. Hum. Genet. 48 (12): 605-8. doi:10.1007/s10038-003-0085-4. PMID 14615938.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Gorospe JR, Singhal BS, Kainu T, et al. (2004). "Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.". Neurology 62 (6): 878-82. PMID 15037685.